Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RYR2	6262	broad.mit.edu	37	1	237813181	237813181	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:237813181C>T	ENST00000366574.2	+	50	7834	c.7517C>T	c.(7516-7518)gCt>gTt	p.A2506V	RYR2_ENST00000360064.6_Missense_Mutation_p.A2504V|RYR2_ENST00000542537.1_Missense_Mutation_p.A2490V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2506	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCAGGCAGCTTTGAGTGCT	0.458000													24	120					0	0	0.003330	0	0
CIT	11113	broad.mit.edu	37	12	120135562	120135562	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:120135562C>T	ENST00000392521.2	-	46	5839	c.5784G>A	c.(5782-5784)gcG>gcA	p.A1928A	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.A1886A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1886					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGTATGAGGACGCCAAGTAAA	0.602000													32	105					0	0	0.010818	0	0
POU6F2	11281	broad.mit.edu	37	7	39247051	39247051	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:39247051C>A	ENST00000518318.2	+	4	385	c.343C>A	c.(343-345)Cca>Aca	p.P115T	POU6F2_ENST00000403058.1_Missense_Mutation_p.P115T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P107T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	115					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGAGGCCCCCCAGCCCTCAA	0.577000													71	201					1.45978e-39	2.82105e-39	0.003610	1	0
OR2A5	393046	broad.mit.edu	37	7	143748127	143748127	+	Silent	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:143748127C>G	ENST00000408906.2	+	1	667	c.633C>G	c.(631-633)ctC>ctG	p.L211L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGGGCCGCTCTGCCTGGTGC	0.602000													69	172					0	0	0.003610	0	0
ERN2	10595	broad.mit.edu	37	16	23703538	23703538	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:23703538G>T	ENST00000256797.4	-	18	2527	c.2359C>A	c.(2359-2361)Ccc>Acc	p.P787T	ERN2_ENST00000457008.2_Missense_Mutation_p.P687T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	739	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCCAGACAGGGAGCCCCTGTG	0.607000													59	65					1.13205e-32	2.17436e-32	0.003610	1	0
BEND2	139105	broad.mit.edu	37	X	18230737	18230737	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:18230737T>C	ENST00000380033.4	-	4	572	c.440A>G	c.(439-441)tAc>tGc	p.Y147C	BEND2_ENST00000380030.3_Missense_Mutation_p.Y147C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	147										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTCTGAGTTGTAACTGTATCT	0.338000													10	71					0	0	0.001855	0	0
DYSF	8291	broad.mit.edu	37	2	71886086	71886086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:71886086C>T	ENST00000258104.3	+	43	4994	c.4717C>T	c.(4717-4719)Cag>Tag	p.Q1573*	DYSF_ENST00000410020.3_Nonsense_Mutation_p.Q1612*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Nonsense_Mutation_p.Q1595*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.Q1605*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.Q1611*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Q1591*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Q1590*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Q1574*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Q1581*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Q1594*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Q1604*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1573	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGCCGCCCAGGGACCCCA	0.557000													27	119					0	0	0.008361	0	0
NLRP7	199713	broad.mit.edu	37	19	55451569	55451569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:55451569G>T	ENST00000446217.1	-	6	1104	c.702C>A	c.(700-702)taC>taA	p.Y234*	NLRP7_ENST00000340844.2_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.Y206*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	206	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGTAGAACGCGTATCTGAGCG	0.587000													32	58					1.39806e-14	2.2818e-14	0.008361	1	0
TAP1	6890	broad.mit.edu	37	6	32816584	32816584	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:32816584C>A	ENST00000354258.4	-	7	1752	c.1591G>T	c.(1591-1593)Gct>Tct	p.A531S	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.A270S	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	531	Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GAGCCCACAGCCTTCTGTACT	0.527000													43	42					1.97e-11	2.96205e-11	0.010771	1	0
PGK2	5232	broad.mit.edu	37	6	49754702	49754702	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:49754702G>T	ENST00000304801.3	-	1	351	c.199C>A	c.(199-201)Cct>Act	p.P67T		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	67					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACACCATCAGGCCGACCTAGA	0.483000													42	62					2.54651e-27	4.78895e-27	0.006999	1	0
GATM	2628	broad.mit.edu	37	15	45657019	45657019	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:45657019G>A	ENST00000396659.3	-	7	1357	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	GATM_ENST00000558336.1_Missense_Mutation_p.P340S	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	340					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GGTGTTGGAGGAGTAATGATA	0.343000													6	13					0	0	0.003080	0	0
SDK2	54549	broad.mit.edu	37	17	71334933	71334933	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:71334933C>A	ENST00000392650.3	-	45	6312	c.6312G>T	c.(6310-6312)gaG>gaT	p.E2104D	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.E2085D	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2104					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCGAGTCGCTCTCCGTGTAGC	0.617000													12	33					3.07112e-06	3.79373e-06	0.010729	1	0
NLRP7	199713	broad.mit.edu	37	19	55445885	55445885	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:55445885G>A	ENST00000446217.1	-	9	2929	c.2527C>T	c.(2527-2529)Cgc>Tgc	p.R843C	NLRP7_ENST00000340844.2_Missense_Mutation_p.R815C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R787C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R815C|NLRP7_ENST00000588756.1_Missense_Mutation_p.R815C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R815C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R787C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	815							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTTTTGGGCGTGTCATGGTC	0.517000													14	81					0	0	0.002450	0	0
TTLL3	26140	broad.mit.edu	37	3	9877118	9877118	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:9877118G>A	ENST00000547186.1	+	13	2480	c.2264G>A	c.(2263-2265)gGg>gAg	p.G755E	TTLL3_ENST00000426895.4_Missense_Mutation_p.G898E|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	755					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCTGTTGGAGGGTCAAGAGTG	0.567000													16	135					0	0	0.004007	0	0
FBXO28	23219	broad.mit.edu	37	1	224318265	224318265	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:224318265T>G	ENST00000366862.5	+	2	402	c.359T>G	c.(358-360)gTt>gGt	p.V120G	FBXO28_ENST00000424254.2_Missense_Mutation_p.V120G	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	120										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CAGAAACAAGTTAAAGCACAA	0.393000													23	24					0	0	0.012319	0	0
ASRGL1	80150	broad.mit.edu	37	11	62123819	62123819	+	Silent	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:62123819A>G	ENST00000415229.2	+	3	428	c.213A>G	c.(211-213)acA>acG	p.T71T	ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Silent_p.T71T	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	71					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TCTTGAACACAAATGGTGAGG	0.478000													32	67					0	0	0.012213	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768626	24768626	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:24768626C>T	ENST00000358028.4	+	4	593	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	NIPAL3_ENST00000339255.2_Silent_p.L82L|NIPAL3_ENST00000374399.4_Silent_p.L82L|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Silent_p.L82L			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	82						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GGGCCTGTTCCTGATGCTTCT	0.577000													32	83					0	0	0.004289	0	0
STAG3	10734	broad.mit.edu	37	7	99809090	99809090	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:99809090G>T	ENST00000426455.1	+	31	3850	c.3443G>T	c.(3442-3444)aGg>aTg	p.R1148M	STAG3_ENST00000317296.5_Missense_Mutation_p.R1148M|STAG3_ENST00000394018.2_Missense_Mutation_p.R1090M|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1148					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGAGGTCAAGGTTCTTGGGT	0.517000													48	135					3.10996e-30	5.9372e-30	0.003610	1	0
LIG3	3980	broad.mit.edu	37	17	33323635	33323635	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:33323635G>C	ENST00000378526.4	+	11	1919	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	LIG3_ENST00000262327.5_Missense_Mutation_p.D596H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	596					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTTTGTTTTTGATTGTATCTA	0.403000								Other BER factors					16	117					0	0	0.006122	0	0
PTPN14	5784	broad.mit.edu	37	1	214575100	214575100	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:214575100T>C	ENST00000366956.5	-	7	791	c.597A>G	c.(595-597)gcA>gcG	p.A199A	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	199	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTTCAGCTTCTGCTGGCAGGA	0.443000													65	60					0	0	0.003610	0	0
NRK	203447	broad.mit.edu	37	X	105152724	105152724	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:105152724C>A	ENST00000428173.2	+	13	1397	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H	NRK_ENST00000243300.9_Missense_Mutation_p.P364H			Q7Z2Y5	NRK_HUMAN	Nik related kinase	364							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTAGAGGACCCTCTTGCACT	0.443000										HNSCC(51;0.14)			9	52					2.17888e-05	2.58025e-05	0.006214	1	0
BDP1	55814	broad.mit.edu	37	5	70809190	70809190	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:70809190A>G	ENST00000358731.4	+	19	4689	c.4426A>G	c.(4426-4428)Atg>Gtg	p.M1476V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1476					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACTATTGTGATGCAAGAAAA	0.328000													9	207					0	0	0.006214	0	0
HEATR5A	25938	broad.mit.edu	37	14	31855777	31855777	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:31855777G>A	ENST00000543095.2	-	9	1378	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	HEATR5A_ENST00000404677.3_Silent_p.A398A|HEATR5A_ENST00000439348.1_Silent_p.A392A|HEATR5A_ENST00000439727.1_Silent_p.A105A|HEATR5A_ENST00000389961.3_Silent_p.A392A	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	392							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACTCATTACGGCATCTGATA	0.373000													10	164					0	0	0.006214	0	0
AMER1	139285	broad.mit.edu	37	X	63411318	63411318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:63411318C>A	ENST00000330258.3	-	2	2121	c.1849G>T	c.(1849-1851)Gaa>Taa	p.E617*	AMER1_ENST00000374869.3_Nonsense_Mutation_p.E617*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.E617*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.E617*(2)									CCATGAGCTTCCCAAGTGTGG	0.637000													5	39					0.000602214	0.000670309	0.000602	1	0
NTRK3	4916	broad.mit.edu	37	15	88690601	88690601	+	Silent	SNP	C	C	A	rs138266478		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:88690601C>A	ENST00000394480.1	-	6	750	c.429G>T	c.(427-429)tcG>tcT	p.S143S	NTRK3_ENST00000558676.1_Silent_p.S143S|NTRK3_ENST00000557856.1_Silent_p.S143S|NTRK3_ENST00000357724.2_Silent_p.S143S|NTRK3_ENST00000542733.2_Silent_p.S45S|NTRK3_ENST00000355254.2_Silent_p.S143S|NTRK3_ENST00000317501.3_Silent_p.S143S|NTRK3_ENST00000540489.2_Silent_p.S143S|NTRK3_ENST00000360948.2_Silent_p.S143S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	143					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGCTGCCACGAGAGTGTGG	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			11	23					0.000978159	0.00108493	0.010729	1	0
NUPL1	9818	broad.mit.edu	37	13	25899149	25899149	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr13:25899149C>T	ENST00000463407.1	+	10	1117	c.974C>T	c.(973-975)gCt>gTt	p.A325V	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.A325V|NUPL1_ENST00000381718.3_Missense_Mutation_p.A313V			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	325	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GCTGAAATAGCTTTAAGAACC	0.328000													4	45					0	0	0.000602	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358833	21358833	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:21358833C>A	ENST00000256958.2	+	11	1459	c.1363C>A	c.(1363-1365)Cca>Aca	p.P455T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	455	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAGAGATGTACCACTTTCTTA	0.383000													18	42					2.4624e-09	3.46274e-09	0.008871	1	0
EDIL3	10085	broad.mit.edu	37	5	83433124	83433124	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:83433124G>T	ENST00000296591.5	-	5	822	c.404C>A	c.(403-405)aCa>aAa	p.T135K	EDIL3_ENST00000380138.3_Missense_Mutation_p.T125K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	135	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			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)		AACAAGATCTGTACATATTCC	0.368000													12	81					0.000219431	0.000249985	0.002450	1	0
REG1A	5967	broad.mit.edu	37	2	79348739	79348739	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:79348739G>A	ENST00000233735.1	+	3	219	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	39	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGCCCAGAAGGCACCAATGCC	0.532000													83	194					0	0	0.003610	0	0
PLB1	151056	broad.mit.edu	37	2	28739673	28739673	+	Splice_Site	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:28739673A>T	ENST00000422425.2	+	2	99		c.e2-1		PLB1_ENST00000327757.5_Splice_Site	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCTTTCTTTCAGGGACCCCTC	0.488000													28	77					0	0	0.005443	0	0
PRAME	23532	broad.mit.edu	37	22	22893340	22893340	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr22:22893340G>T	ENST00000543184.1	-	3	1055	c.193C>A	c.(193-195)Cac>Aac	p.H65N	PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000539862.1_Missense_Mutation_p.H49N|PRAME_ENST00000406503.1_Missense_Mutation_p.H65N|PRAME_ENST00000398743.2_Missense_Mutation_p.H65N|PRAME_ENST00000398741.1_Missense_Mutation_p.H65N|PRAME_ENST00000405655.3_Missense_Mutation_p.H65N|PRAME_ENST00000402697.1_Missense_Mutation_p.H65N|PRAME_ENST00000424204.2_Missense_Mutation_p.H49N	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	65					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTCTGGCTGTGTCTCCCGTCA	0.612000													17	89					2.39187e-15	3.96547e-15	0.008871	1	0
KIAA0922	23240	broad.mit.edu	37	4	154524568	154524568	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:154524568A>T	ENST00000409959.3	+	24	2802	c.2753A>T	c.(2752-2754)aAt>aTt	p.N918I	KIAA0922_ENST00000409663.3_Missense_Mutation_p.N917I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N834I	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	917						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGCAAAACAATGGTCCTATG	0.413000													7	56					0	0	0.003080	0	0
C17orf102	400591	broad.mit.edu	37	17	32904574	32904574	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:32904574G>T	ENST00000357754.1	-	2	564	c.476C>A	c.(475-477)gCt>gAt	p.A159D		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	159										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						gaggacaagagctggttttgt	0.473000													10	30					2.52707e-12	3.86421e-12	0.006214	1	0
WBP11P1	441818	broad.mit.edu	37	18	30093540	30093540	+	RNA	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:30093540C>T	ENST00000567636.1	+	0	1915					NR_003558.1																						TCACTAATCCCAAGGCAGAGA	0.483000													44	291					0	0	0.003610	0	0
KIF19	124602	broad.mit.edu	37	17	72346894	72346894	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:72346894G>A	ENST00000389916.4	+	12	1575	c.1437G>A	c.(1435-1437)caG>caA	p.Q479Q		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	479					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGAGGAGCAGCGAAAGGAGT	0.652000													43	90					0	0	0.013114	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67059113	67059113	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:67059113G>T	ENST00000447274.2	+	5	1351	c.176G>T	c.(175-177)cGc>cTc	p.R59L	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R59L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R59L|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R146L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	59										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GATGTGTACCGCGTGTGGAAG	0.622000													22	57					1.10513e-12	1.72335e-12	0.002299	1	0
OR2W3	343171	broad.mit.edu	37	1	248059128	248059128	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:248059128G>A	ENST00000537741.1	+	3	497	c.240G>A	c.(238-240)caG>caA	p.Q80Q	OR2W3_ENST00000360358.3_Silent_p.Q80Q			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATCCCCCAGCTGCTCTACA	0.587000													29	174					0	0	0.006320	0	0
SLC12A4	6560	broad.mit.edu	37	16	67997387	67997387	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:67997387C>T	ENST00000316341.3	-	2	331	c.191G>A	c.(190-192)aGg>aAg	p.R64K	SLC12A4_ENST00000576616.1_Missense_Mutation_p.R64K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R58K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R64K|SLC12A4_ENST00000422611.2_Intron|SLC12A4_ENST00000572037.1_Intron|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R33K	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	64					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCAGGTTCCTGTCATAGTA	0.547000													25	31					0	0	0.007291	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707468	37707468	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:37707468C>A	ENST00000539465.1	+	3	750	c.157C>A	c.(157-159)Cct>Act	p.P53T	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P53T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	53						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GACCCTCATCCCTGTGCGACA	0.502000													41	86					8.69298e-16	1.45267e-15	0.006999	1	0
SLC26A10	65012	broad.mit.edu	37	12	58018651	58018651	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:58018651C>G	ENST00000379218.2	+	11	1648	c.1337C>G	c.(1336-1338)tCc>tGc	p.S446C	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Silent_p.L410L			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCTCTTAGCTCCTCCAGGTCC	0.587000													21	85					0	0	0.002299	0	0
TRAF5	7188	broad.mit.edu	37	1	211534059	211534059	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:211534059T>C	ENST00000261464.5	+	6	613	c.559T>C	c.(559-561)Ttg>Ctg	p.L187L	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.L187L|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Silent_p.L187L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	187					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGAGGAAAACTTGTGTCCTGA	0.368000													7	43					0	0	0.003080	0	0
PVRL4	81607	broad.mit.edu	37	1	161049471	161049471	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:161049471G>A	ENST00000368012.3	-	2	650	c.348C>T	c.(346-348)aaC>aaT	p.N116N		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	116	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTGCACTGCGTTGCGCAGGA	0.701000													7	51					0	0	0.001984	0	0
BCORL1	63035	broad.mit.edu	37	X	129149581	129149581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:129149581C>T	ENST00000540052.1	+	3	2877	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*	BCORL1_ENST00000359304.2_Nonsense_Mutation_p.R945*|BCORL1_ENST00000218147.7_Nonsense_Mutation_p.R945*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.R945*	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	945					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGGGACATTCGAATGAATCA	0.577000													16	130					0	0	0.004007	0	0
A2M	2	broad.mit.edu	37	12	9230301	9230301	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:9230301A>G	ENST00000318602.7	-	26	3579	c.3272T>C	c.(3271-3273)aTa>aCa	p.I1091T		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1091					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATTCACCTTTATGGCATTGTT	0.438000													12	60					0	0	0.002450	0	0
TRBV27	28560	broad.mit.edu	37	7	142423431	142423431	+	RNA	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:142423431C>A	ENST00000506718.1	+	0	439				TRBV27_ENST00000390399.3_RNA																							ACCCAAGATACCTCATCACAG	0.493000													30	74					2.47511e-08	3.3606e-08	0.008361	1	0
LAMA2	3908	broad.mit.edu	37	6	129762043	129762043	+	Silent	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:129762043A>G	ENST00000421865.2	+	43	6217	c.6168A>G	c.(6166-6168)acA>acG	p.T2056T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2056	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACAGATTACAGAGCTCCACC	0.463000													11	25					0	0	0.010729	0	0
LAMA3	3909	broad.mit.edu	37	18	21512237	21512237	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:21512237G>A	ENST00000313654.9	+	66	8931	c.8690G>A	c.(8689-8691)aGc>aAc	p.S2897N	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1232N|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1288N|LAMA3_ENST00000399516.3_Missense_Mutation_p.S2841N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2897	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTTGTATTAGCAATGTTTTT	0.468000													33	73					0	0	0.003271	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870553	51870553	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:51870553G>T	ENST00000371497.5	+	2	1443	c.556G>T	c.(556-558)Gtc>Ttc	p.V186F	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V183F|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V183F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	186					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTCTCGGTCCGTCTCGAAACC	0.557000													13	60					9.05144e-12	1.37077e-11	0.001855	1	0
MAST3	23031	broad.mit.edu	37	19	18235560	18235560	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:18235560G>T	ENST00000262811.5	+	10	967	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	323							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGGGCAGCTGGGCCTGGCCAA	0.617000													9	23					0.00829132	0.00886847	0.008291	1	0
IGLON5	402665	broad.mit.edu	37	19	51826942	51826942	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:51826942G>T	ENST00000270642.8	+	3	185	c.185G>T	c.(184-186)cGc>cTc	p.R62L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	62	Ig-like C2-type 1.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						CACGTGACCCGCGTGGCCTGG	0.647000													12	34					7.03913e-09	9.70383e-09	0.001368	1	0
HIVEP1	3096	broad.mit.edu	37	6	12124237	12124237	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:12124237A>T	ENST00000379388.2	+	4	4541	c.4209A>T	c.(4207-4209)gaA>gaT	p.E1403D		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1403					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACTTACTGAATTGCAGCCTC	0.478000													4	105					0	0	0.000602	0	0
DIDO1	11083	broad.mit.edu	37	20	61513243	61513243	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:61513243C>A	ENST00000266070.4	-	16	4390	c.4065G>T	c.(4063-4065)ccG>ccT	p.P1355P	DIDO1_ENST00000395343.1_Silent_p.P1355P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1355					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACGGAGGTGCCGGCACCCCGT	0.587000													50	120					1.47857e-17	2.54509e-17	0.003610	1	0
GGA3	23163	broad.mit.edu	37	17	73240717	73240717	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:73240717T>G	ENST00000245541.6	-	4	499	c.283A>C	c.(283-285)Aaa>Caa	p.K95Q	GGA3_ENST00000537686.1_Missense_Mutation_p.K95Q|GGA3_ENST00000582717.1_Missense_Mutation_p.K23Q|GGA3_ENST00000582486.1_Missense_Mutation_p.K23Q|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000579743.1_5'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	95	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GAGACGACTTTGATTAACTCA	0.488000													69	187					0	0	0.003610	0	0
FGA	2243	broad.mit.edu	37	4	155508744	155508744	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:155508744T>A	ENST00000302053.3	-	4	508	c.430A>T	c.(430-432)Aaa>Taa	p.K144*	FGA_ENST00000403106.3_Nonsense_Mutation_p.K144*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	144					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTATGACTTTGCGCTTCAGG	0.418000													16	42					0	0	0.004990	0	0
SH2D1A	4068	broad.mit.edu	37	X	123480538	123480538	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:123480538G>T	ENST00000371139.4	+	1	345	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	SH2D1A_ENST00000360027.4_Missense_Mutation_p.G16C|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	16	SH2.		G -> D (in XLP1; abolishes interaction with SLAMF1).		cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGGGAAACCGGCGAGAAGCT	0.592000													22	61					1.87028e-06	2.33785e-06	0.012319	1	0
ZNF257	113835	broad.mit.edu	37	19	22271202	22271202	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:22271202C>A	ENST00000594947.1	+	4	794	c.650C>A	c.(649-651)aCt>aAt	p.T217N	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T217N(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCAGCTCTTACTCGACATAAG	0.388000													10	45					9.70103e-10	1.39217e-09	0.008291	1	0
LRP1B	53353	broad.mit.edu	37	2	142238100	142238100	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:142238100G>T	ENST00000389484.3	-	3	1179	c.208C>A	c.(208-210)Ccc>Acc	p.P70T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	70	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTCCTCGGGACCTGAAAAG	0.373000										TSP Lung(27;0.18)			7	22					2.7689e-08	3.75141e-08	0.001984	1	0
NAGK	55577	broad.mit.edu	37	2	71300684	71300684	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:71300684A>G	ENST00000418807.3	+	5	550	c.386A>G	c.(385-387)gAt>gGt	p.D129G	NAGK_ENST00000244204.5_Missense_Mutation_p.D180G|NAGK_ENST00000455662.2_Missense_Mutation_p.D226G			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	180	Substrate binding.				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTCCTCATGATATCGGCTAC	0.522000													75	254					0	0	0.003610	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067189	11067189	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:11067189C>A	ENST00000287766.4	+	8	1190	c.769C>A	c.(769-771)Cgt>Agt	p.R257S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.R79S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	257					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCTGTTCTTCCGTGGAGTGAC	0.587000													8	40					0.000442599	0.000497037	0.006214	1	0
UNC5C	8633	broad.mit.edu	37	4	96106324	96106324	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:96106324C>T	ENST00000453304.1	-	13	2508	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	720					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTCCTCCCATCTGTCTCTCAA	0.443000													15	72					0	0	0.004007	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768625	24768625	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:24768625C>T	ENST00000358028.4	+	4	592	c.243C>T	c.(241-243)ttC>ttT	p.F81F	NIPAL3_ENST00000339255.2_Silent_p.F81F|NIPAL3_ENST00000374399.4_Silent_p.F81F|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Silent_p.F81F			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	81						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGGGCCTGTTCCTGATGCTTC	0.572000													32	80					0	0	0.004289	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798435	57798435	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:57798435A>T	ENST00000302622.3	+	1	34	c.11A>T	c.(10-12)tAt>tTt	p.Y4F	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ATGCAACCATATACCAAAAAC	0.448000													35	113					0	0	0.003271	0	0
ZAN	7455	broad.mit.edu	37	7	100361433	100361433	+	RNA	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:100361433C>G	ENST00000542585.1	+	0	4139				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGCAGGTGTCAGAAGTACCA	0.597000													6	117					0	0	0.001984	0	0
TNNT3	7140	broad.mit.edu	37	11	1955808	1955808	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:1955808C>A	ENST00000381558.1	+	12	768	c.489C>A	c.(487-489)gcC>gcA	p.A163A	TNNT3_ENST00000397301.1_Silent_p.A182A|TNNT3_ENST00000381561.4_Silent_p.A174A|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Silent_p.A163A|TNNT3_ENST00000381579.3_Silent_p.A163A|TNNT3_ENST00000381548.3_Silent_p.A173A|TNNT3_ENST00000381589.3_Silent_p.A169A|TNNT3_ENST00000360603.3_Silent_p.A165A|TNNT3_ENST00000278317.6_Silent_p.A171A|TNNT3_ENST00000397304.2_Silent_p.A152A|TNNT3_ENST00000446240.1_Silent_p.A152A			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	182					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGCAGACAGCCCGGGAAATGA	0.587000													6	11					0.00116845	0.00128468	0.001168	1	0
APOL3	80833	broad.mit.edu	37	22	36537770	36537770	+	Silent	SNP	C	C	A	rs146525352	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr22:36537770C>A	ENST00000424878.2	-	4	2235	c.87G>T	c.(85-87)gcG>gcT	p.A29A	APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_Silent_p.A29A			O95236	APOL3_HUMAN	apolipoprotein L, 3	229					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCACAGCAGACGCTGCTCCCA	0.567000													3	29					0.00909568	0.00959846	0.009096	1	0
HECW1	23072	broad.mit.edu	37	7	43447293	43447293	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:43447293T>A	ENST00000395891.1	+	8	1369	c.764T>A	c.(763-765)aTc>aAc	p.I255N	HECW1_ENST00000453890.1_Missense_Mutation_p.I255N|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	255	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGATCCAAGATCATAGGCAAC	0.527000													18	35					0	0	0.002299	0	0
OPLAH	26873	broad.mit.edu	37	8	145108265	145108265	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:145108265C>A	ENST00000426825.1	-	20	2799	c.2718G>T	c.(2716-2718)aaG>aaT	p.K906N	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	906							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGTTGGGGACCTTGCCTGGCG	0.657000													14	64					6.31663e-08	8.41327e-08	0.003163	1	0
CSMD3	114788	broad.mit.edu	37	8	113253949	113253949	+	Splice_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:113253949C>A	ENST00000297405.5	-	66	10712	c.10468_splice	c.e66+1	p.V3490_splice	CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3490						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						CATTACTAACCACTTAGCTTT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	87					2.59497e-14	4.21348e-14	0.007835	1	0
PRRC2A	7916	broad.mit.edu	37	6	31600360	31600360	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:31600360G>T	ENST00000376033.2	+	16	4144	c.3910G>T	c.(3910-3912)Gcc>Tcc	p.A1304S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A1304S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1304	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGGGCAGCTGCCAAGTCTCC	0.607000													24	127					6.21321e-17	1.06079e-16	0.002780	1	0
OR51A4	401666	broad.mit.edu	37	11	4968008	4968008	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:4968008C>A	ENST00000380373.2	-	1	348	c.323G>T	c.(322-324)gGa>gTa	p.G108V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		TACTGAGAATCCATGAATGAA	0.443000													35	336					3.03874e-20	5.549e-20	0.003271	1	0
ZNF275	10838	broad.mit.edu	37	X	152613149	152613149	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:152613149C>A	ENST00000421401.3	+	4	1183	c.1006C>A	c.(1006-1008)Ctc>Atc	p.L336I	ZNF275_ENST00000370249.2_Missense_Mutation_p.L283I|ZNF275_ENST00000440091.1_Missense_Mutation_p.L366I|ZNF275_ENST00000370251.2_Intron	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	252						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTCCAGCCTCCTGGAGCA	0.692000													4	37					0.00909568	0.00959846	0.009096	1	0
SOX9	6662	broad.mit.edu	37	17	70117637	70117637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:70117637C>A	ENST00000245479.2	+	1	477	c.105C>A	c.(103-105)tgC>tgA	p.C35*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	35					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCTCGCCCTGCCCGTCGGGCT	0.672000													4	16					0.00909568	0.00959846	0.009096	1	0
MAOB	4129	broad.mit.edu	37	X	43662545	43662545	+	Splice_Site	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:43662545A>T	ENST00000378069.4	-	4	532		c.e4+1		MAOB_ENST00000536181.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000487544.1_Splice_Site	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B						xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	AAGAAGCTTTACCTCTCGCCC	0.378000													4	45					0	0	0.009096	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099521	142099521	+	RNA	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:142099521G>A	ENST00000390359.3	-	0	319																											CTTCAGAGTGGAGACGGATCC	0.547000													7	86					0	0	0.001984	0	0
CACNA1E	777	broad.mit.edu	37	1	181479632	181479632	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:181479632C>A	ENST00000526775.1	+	2	451	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	CACNA1E_ENST00000367573.2_Missense_Mutation_p.L96M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L96M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L96M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L47M|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L47M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	96					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTACATGATCCTGGCCACCAT	0.537000													5	37					0.000602214	0.000670309	0.000602	1	0
PYHIN1	149628	broad.mit.edu	37	1	158913591	158913591	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:158913591T>C	ENST00000368140.1	+	6	1259	c.1014T>C	c.(1012-1014)aaT>aaC	p.N338N	PYHIN1_ENST00000392252.3_Silent_p.N329N|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.N329N|PYHIN1_ENST00000392254.2_Silent_p.N338N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	338	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATTGTAAATAGGAAGACGA	0.343000													11	23					0	0	0.010729	0	0
CSMD1	64478	broad.mit.edu	37	8	3443742	3443742	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:3443742C>A	ENST00000602557.1	-	10	1696	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	CSMD1_ENST00000537824.1_Missense_Mutation_p.V380L|CSMD1_ENST00000542608.1_Missense_Mutation_p.V380L|CSMD1_ENST00000520002.1_Missense_Mutation_p.V381L|CSMD1_ENST00000400186.3_Missense_Mutation_p.V381L|CSMD1_ENST00000539096.1_Missense_Mutation_p.V380L|CSMD1_ENST00000602723.1_Missense_Mutation_p.V381L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	381	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTGGAGCACGTAATTGTCC	0.448000													3	12					0.004672	0.00501424	0.004672	1	0
PRKCQ	5588	broad.mit.edu	37	10	6553016	6553016	+	Translation_Start_Site	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:6553016C>T	ENST00000539722.1	-	0	296				PRKCQ_ENST00000397176.2_Missense_Mutation_p.V87M|PRKCQ_ENST00000263125.5_Missense_Mutation_p.V87M			Q04759	KPCT_HUMAN	protein kinase C, theta						axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TAGAGCTCCACGGTGGTTTCA	0.483000													21	104					0	0	0.002780	0	0
TMCC3	57458	broad.mit.edu	37	12	94976286	94976286	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:94976286C>T	ENST00000261226.4	-	2	238	c.107G>A	c.(106-108)aGc>aAc	p.S36N	TMCC3_ENST00000551457.1_Missense_Mutation_p.S5N	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	36						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CAGGGGCAGGCTTAAGGTATT	0.458000													12	59					0	0	0.001855	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								4	56					0	0	0.009096	0	0
NLRP5	126206	broad.mit.edu	37	19	56538692	56538692	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:56538692G>A	ENST00000390649.3	+	7	1093	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	365	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGACGGTTTCGATGACCTGGG	0.547000													4	21					0	0	0.009096	0	0
TSPAN31	6302	broad.mit.edu	37	12	58139966	58139966	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:58139966T>A	ENST00000257910.3	+	3	513	c.239T>A	c.(238-240)aTc>aAc	p.I80N	TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000547992.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	80					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGTACATGATCATCCTTGGT	0.373000													9	55					0	0	0.001368	0	0
MUC5B	727897	broad.mit.edu	37	11	1272071	1272071	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:1272071C>A	ENST00000447027.1	+	31	14028	c.13970C>A	c.(13969-13971)aCc>aAc	p.T4657N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4654N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4654	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gtgctgaccaccaccaccaca	0.617000													7	42					8.12818e-05	9.34445e-05	0.001984	1	0
COL6A3	1293	broad.mit.edu	37	2	238275811	238275811	+	Silent	SNP	G	G	T	rs140516220		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:238275811G>T	ENST00000295550.4	-	11	5471	c.5019C>A	c.(5017-5019)ggC>ggA	p.G1673G	COL6A3_ENST00000347401.3_Silent_p.G1472G|COL6A3_ENST00000346358.4_Silent_p.G1473G|COL6A3_ENST00000472056.1_Silent_p.G1066G|COL6A3_ENST00000353578.4_Silent_p.G1467G|COL6A3_ENST00000409809.1_Silent_p.G1467G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1673	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGATGGAGTCGCCATCTTCAT	0.473000													9	25					2.17888e-05	2.58025e-05	0.006214	1	0
USH2A	7399	broad.mit.edu	37	1	216420067	216420067	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:216420067G>T	ENST00000366943.2	-	13	3055	c.2669C>A	c.(2668-2670)aCc>aAc	p.T890N	USH2A_ENST00000366942.3_Missense_Mutation_p.T890N|USH2A_ENST00000307340.3_Missense_Mutation_p.T890N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	890	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGTCAATGGTCAAATTGTA	0.473000										HNSCC(13;0.011)			22	198					8.04996e-18	1.3971e-17	0.012319	1	0
REG1B	5968	broad.mit.edu	37	2	79314699	79314699	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:79314699G>T	ENST00000305089.3	-	2	120	c.40C>A	c.(40-42)Ctg>Atg	p.L14M		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	14					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGGAACATCAGGGAGGAGATC	0.483000													6	21					0.00116845	0.00128468	0.001168	1	0
WDHD1	11169	broad.mit.edu	37	14	55411173	55411173	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:55411173G>A	ENST00000360586.3	-	25	3131	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	WDHD1_ENST00000420358.2_Silent_p.F899F|WDHD1_ENST00000421192.1_Silent_p.F899F|WDHD1_ENST00000359167.4_Silent_p.F540F	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1022						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ACCACATCTGGAACCCGGTCT	0.318000													12	32					0	0	0.001368	0	0
BRCA1	672	broad.mit.edu	37	17	41234512	41234512	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:41234512C>A	ENST00000309486.4	-	11	4405	c.3378G>T	c.(3376-3378)ggG>ggT	p.G1126G	BRCA1_ENST00000491747.2_Silent_p.G319G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Silent_p.G1422G|BRCA1_ENST00000352993.3_Silent_p.G280G|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Silent_p.G1375G|BRCA1_ENST00000351666.3_Silent_p.G239G|BRCA1_ENST00000354071.3_Silent_p.G1422G|BRCA1_ENST00000346315.3_Silent_p.G1422G|BRCA1_ENST00000471181.2_Silent_p.G1422G|BRCA1_ENST00000468300.1_Silent_p.G319G|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1422					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAGGCTGGCTCCCATGCTGTT	0.453000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			26	69					2.79863e-10	4.08134e-10	0.004656	1	0
FLT1	2321	broad.mit.edu	37	13	28882994	28882994	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr13:28882994T>A	ENST00000282397.4	-	28	3957	c.3706A>T	c.(3706-3708)Acc>Tcc	p.T1236S	FLT1_ENST00000540678.1_Missense_Mutation_p.T454S|FLT1_ENST00000543394.1_Missense_Mutation_p.T259S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1236					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AACATGGAGGTGGCATTCGGT	0.403000													5	17					0	0	0.001168	0	0
KIAA0355	9710	broad.mit.edu	37	19	34818678	34818678	+	Silent	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:34818678A>T	ENST00000299505.6	+	5	1722	c.849A>T	c.(847-849)gcA>gcT	p.A283A		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	283										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATTTCCAGGCATATAAGATAG	0.338000													14	34					0	0	0.003163	0	0
ZNF667	63934	broad.mit.edu	37	19	56953937	56953937	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:56953937G>T	ENST00000504904.3	-	7	1146	c.427C>A	c.(427-429)Cct>Act	p.P143T	ZNF667_ENST00000342634.3_Missense_Mutation_p.P271T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.P143T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATTTTAAAGGTTTCTTCCCT	0.378000													9	103					3.09899e-07	3.98441e-07	0.004482	1	0
GLS2	27165	broad.mit.edu	37	12	56867050	56867050	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:56867050G>T	ENST00000311966.4	-	14	1689	c.1411C>A	c.(1411-1413)Cgg>Agg	p.R471R		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	471					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	p.R471W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTAACTTCCGAGCACAGTGC	0.453000													3	57					0.00909568	0.00959846	0.009096	1	0
DYDC1	143241	broad.mit.edu	37	10	82111703	82111703	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:82111703T>C	ENST00000421924.2	-	3	614	c.203A>G	c.(202-204)cAg>cGg	p.Q68R	DYDC1_ENST00000372202.1_Missense_Mutation_p.Q68R|DYDC1_ENST00000372204.3_Missense_Mutation_p.Q68R|DYDC2_ENST00000372198.1_Intron|DYDC2_ENST00000372199.1_Intron|DYDC2_ENST00000372197.1_Intron			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	68										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			CATCATTTCCTGCTCCATCAG	0.468000													31	96					0	0	0.005524	0	0
CNKSR2	22866	broad.mit.edu	37	X	21444616	21444616	+	Splice_Site	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:21444616T>C	ENST00000425654.2	+	2	546	c.64_splice	c.e2-1	p.G22_splice	CNKSR2_ENST00000279451.4_Splice_Site_p.G22_splice|CNKSR2_ENST00000543067.1_Splice_Site_p.G22_splice|CNKSR2_ENST00000379510.3_Splice_Site_p.G22_splice	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	22	SAM.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATTTTGTAGGTCTTGATGACT	0.413000													4	40					0	0	0.009096	0	0
CST3	1471	broad.mit.edu	37	20	23614635	23614635	+	Splice_Site	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:23614635T>A	ENST00000398411.1	-	3	441	c.357_splice	c.e3-1	p.K120_splice	CST3_ENST00000376925.3_Splice_Site_p.K120_splice|CST3_ENST00000398409.1_Splice_Site_p.K120_splice			P01034	CYTC_HUMAN	cystatin C	120					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCAGAATGCTTTCTGTGAAAG	0.537000													16	53					0	0	0.004007	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833442	101833442	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:101833442A>G	ENST00000263468.8	+	6	1946	c.1676A>G	c.(1675-1677)cAt>cGt	p.H559R	KIAA1377_ENST00000537689.1_Missense_Mutation_p.H360R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	559							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GTTGGCCAGCATAAGAAAATG	0.294000													10	26					0	0	0.006214	0	0
F13B	2165	broad.mit.edu	37	1	197026449	197026449	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:197026449C>T	ENST00000367412.1	-	6	995	c.952G>A	c.(952-954)Gat>Aat	p.D318N		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	318	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CATTTTCCATCTTCACAACGT	0.358000													12	92					0	0	0.010729	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873704	91873704	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:91873704G>C	ENST00000373094.1	+	7	4654	c.3809G>C	c.(3808-3810)aGt>aCt	p.S1270T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1260T|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1262T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1252T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1233T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1233T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1270					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCCATCGTAGTCAGGCCCAA	0.552000													34	182					0	0	0.003755	0	0
NPY2R	4887	broad.mit.edu	37	4	156135828	156135828	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:156135828T>A	ENST00000329476.3	+	2	1226	c.737T>A	c.(736-738)tTg>tAg	p.L246*	NPY2R_ENST00000506608.1_Nonsense_Mutation_p.L246*	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	246					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGAGTAAATTGAAGAACCAT	0.443000													14	57					0	0	0.001855	0	0
GLMN	11146	broad.mit.edu	37	1	92733549	92733549	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:92733549T>A	ENST00000370360.3	-	11	1100	c.1019A>T	c.(1018-1020)gAg>gTg	p.E340V	GLMN_ENST00000534881.1_Missense_Mutation_p.E340V	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	340					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TAAACTATTCTCCAGCAGCTC	0.294000									Multiple Glomus Tumors (of the Skin), Familial				15	67					0	0	0.002450	0	0
LPPR4	9890	broad.mit.edu	37	1	99771914	99771914	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:99771914C>A	ENST00000370185.3	+	7	2137	c.1640C>A	c.(1639-1641)tCc>tAc	p.S547Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.S489Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.S389Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		547							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATAAGCACCTCCCCCAAAAGC	0.537000													42	104					1.57019e-19	2.8183e-19	0.007835	1	0
GPR141	353345	broad.mit.edu	37	7	37780847	37780847	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:37780847C>T	ENST00000447769.1	+	4	1141	c.852C>T	c.(850-852)gtC>gtT	p.V284V	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.V284V			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	284						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTCTTTGTCTTTGGGGGAA	0.378000													18	59					0	0	0.004990	0	0
NTRK2	4915	broad.mit.edu	37	9	87570366	87570366	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:87570366G>C	ENST00000376214.1	+	19	3044	c.2106G>C	c.(2104-2106)gaG>gaC	p.E702D	NTRK2_ENST00000277120.3_Missense_Mutation_p.E702D|NTRK2_ENST00000323115.4_Missense_Mutation_p.E686D|NTRK2_ENST00000376213.1_Missense_Mutation_p.E686D	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	686	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGTCGGGGAGAACTTGCTGG	0.597000										TSP Lung(25;0.17)			6	34					0	0	0.003080	0	0
PRKACB	5567	broad.mit.edu	37	1	84679969	84679969	+	Missense_Mutation	SNP	C	C	T	rs143624941	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:84679969C>T	ENST00000370689.2	+	9	1163	c.899C>T	c.(898-900)aCg>aTg	p.T300M	PRKACB_ENST00000394838.2_Missense_Mutation_p.T307M|PRKACB_ENST00000370682.3_Missense_Mutation_p.T304M|PRKACB_ENST00000394839.2_Missense_Mutation_p.T270M|PRKACB_ENST00000370685.3_Missense_Mutation_p.T347M	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	300	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TGGTTTGCCACGACAGATTGG	0.363000													4	24					0	0	0.000602	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651931	121651931	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:121651931A>G	ENST00000393386.2	+	12	3242	c.2831A>G	c.(2830-2832)tAc>tGc	p.Y944C	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	944					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTTCTTACAGTTCTGCA	0.453000													32	89					0	0	0.012213	0	0
RYR2	6262	broad.mit.edu	37	1	237947313	237947313	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:237947313C>A	ENST00000366574.2	+	90	12618	c.12301C>A	c.(12301-12303)Ctt>Att	p.L4101I	RYR2_ENST00000360064.6_Missense_Mutation_p.L4107I|RYR2_ENST00000542537.1_Missense_Mutation_p.L4085I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4101					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGTCGCCGTCCTTCTGACAAA	0.517000													19	22					2.94398e-08	3.98006e-08	0.007413	1	0
DCHS1	8642	broad.mit.edu	37	11	6662271	6662271	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:6662271G>T	ENST00000299441.3	-	2	985	c.574C>A	c.(574-576)Cgg>Agg	p.R192R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTCCAGCCGGAAGGTCTCT	0.607000													37	80					8.73648e-17	1.48756e-16	0.004289	1	0
ZP4	57829	broad.mit.edu	37	1	238049109	238049109	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:238049109G>C	ENST00000366570.4	-	7	1075	c.917C>G	c.(916-918)cCc>cGc	p.P306R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	306	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTCAGGAAAGGGTGGTGGGAG	0.502000													42	38					0	0	0.006999	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293801	71293801	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:71293801C>G	ENST00000398530.1	-	1	120	c.83G>C	c.(82-84)tGt>tCt	p.C28S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	28						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCCCCCACAGCCAGAGCC	0.647000													5	142					0	0	0.000602	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627644	43627644	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:43627644C>A	ENST00000332857.6	-	4	1071	c.1043G>T	c.(1042-1044)gGa>gTa	p.G348V		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGTAAATGATCCAACATTTTC	0.428000													104	72					4.64599e-62	9.1468e-62	0.003610	1	0
DPEP3	64180	broad.mit.edu	37	16	68014139	68014139	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:68014139G>A	ENST00000268793.4	-	1	593	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	49					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGGAGCCCAGCGTGGAGAGG	0.711000													10	12					0	0	0.008291	0	0
MAST4	375449	broad.mit.edu	37	5	66426037	66426037	+	Splice_Site	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:66426037G>T	ENST00000404260.3	+	15	2062		c.e15-1		MAST4_ENST00000403666.1_Splice_Site|MAST4_ENST00000403625.2_Splice_Site|MAST4_ENST00000261569.7_Splice_Site|MAST4_ENST00000405643.1_Splice_Site			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4							cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTCCTTTTCAGGGCAGTCTAC	0.418000													3	9					0.004672	0.00501424	0.004672	1	0
ADAD1	132612	broad.mit.edu	37	4	123317427	123317427	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:123317427G>T	ENST00000296513.2	+	7	804	c.619G>T	c.(619-621)Gca>Tca	p.A207S	ADAD1_ENST00000388724.2_Missense_Mutation_p.A207S|ADAD1_ENST00000388725.2_Missense_Mutation_p.A189S|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	207					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATTCAATATGCAAAGATTTC	0.294000													5	23					5.9392e-07	7.62056e-07	0.001168	1	0
GLRA3	8001	broad.mit.edu	37	4	175604028	175604028	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:175604028C>T	ENST00000274093.3	-	6	1139	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	GLRA3_ENST00000340217.5_Missense_Mutation_p.E213K	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	213					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGAGTCCTTCTGCCACTTGT	0.368000													5	34					0	0	0.000602	0	0
ACO2	50	broad.mit.edu	37	22	41895792	41895792	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr22:41895792G>T	ENST00000396512.3	+	2	116	c.99G>T	c.(97-99)gcG>gcT	p.A33A	ACO2_ENST00000216254.4_Silent_p.A33A			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	33					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCAAGGTGGCGATGAGCCACT	0.522000													49	255					2.64894e-19	4.71422e-19	0.003610	1	0
CHD2	1106	broad.mit.edu	37	15	93558024	93558024	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:93558024C>T	ENST00000394196.4	+	37	5859	c.4791C>T	c.(4789-4791)acC>acT	p.T1597T	CHD2_ENST00000557381.1_Silent_p.T1597T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1597					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTCCCATACCTCACACAACC	0.527000													7	105					0	0	0.003080	0	0
OR52N4	390072	broad.mit.edu	37	11	5776415	5776415	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:5776415G>C	ENST00000317254.3	+	1	493	c.445G>C	c.(445-447)Gcc>Ccc	p.A149P	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTTGGGACTGCCACCTTCCT	0.488000													46	107					0	0	0.009718	0	0
JADE3	9767	broad.mit.edu	37	X	46917891	46917891	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:46917891G>T	ENST00000218343.4	+	11	2182	c.1884G>T	c.(1882-1884)tcG>tcT	p.S628S	PHF16_ENST00000397189.1_Silent_p.S628S	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		628					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCCCGTCCTCGGAGTGCTATC	0.537000													9	62					1.76689e-08	2.4042e-08	0.006214	1	0
COL11A1	1301	broad.mit.edu	37	1	103449739	103449739	+	Silent	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:103449739A>T	ENST00000358392.2	-	31	2864	c.2547T>A	c.(2545-2547)ctT>ctA	p.L849L	COL11A1_ENST00000512756.1_Silent_p.L721L|COL11A1_ENST00000370096.3_Silent_p.L837L|COL11A1_ENST00000353414.4_Silent_p.L798L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	837	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGAACTCCAAGTTTTCCCT	0.254000													7	8					0	0	0.001984	0	0
HTR1F	3355	broad.mit.edu	37	3	88040418	88040418	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:88040418C>G	ENST00000319595.4	+	1	573	c.519C>G	c.(517-519)atC>atG	p.I173M		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	173					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATGAATGCATCATCAAGCACG	0.378000													7	42					0	0	0.001984	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	60					0	0	0.006214	0	0
KRT37	8688	broad.mit.edu	37	17	39579095	39579095	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:39579095C>A	ENST00000225550.3	-	3	666	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	223	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCTCCAGGTCGGCCTTGGCC	0.662000													17	55					4.7546e-09	6.64169e-09	0.004007	1	0
SYT7	9066	broad.mit.edu	37	11	61295448	61295448	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:61295448C>T	ENST00000263846.4	-	5	888	c.561G>A	c.(559-561)ctG>ctA	p.L187L	SYT7_ENST00000542836.1_Silent_p.L231L|SYT7_ENST00000542670.1_Silent_p.L395L|SYT7_ENST00000540677.1_Silent_p.L262L|SYT7_ENST00000539008.1_Silent_p.L470L|SYT7_ENST00000535826.1_Silent_p.L306L|SYT7_ENST00000540831.1_5'UTR	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	187	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTTGGTCTCCAGCTTGTGCT	0.582000													9	91					0	0	0.004482	0	0
CLVS2	134829	broad.mit.edu	37	6	123332140	123332140	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:123332140G>A	ENST00000275162.4	+	3	1735	c.400G>A	c.(400-402)Gtg>Atg	p.V134M	CLVS2_ENST00000368438.1_5'UTR	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	134	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GTACACACTGGTGGATATTTT	0.363000													27	50					0	0	0.007291	0	0
ZNF28	7576	broad.mit.edu	37	19	53304938	53304938	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:53304938T>C	ENST00000457749.2	-	4	279	c.160A>G	c.(160-162)Atg>Gtg	p.M54V	ZNF28_ENST00000594602.1_Missense_Mutation_p.H93R|ZNF28_ENST00000360272.4_Start_Codon_SNP_p.M1V|ZNF28_ENST00000438150.2_Start_Codon_SNP_p.M1V|ZNF28_ENST00000414252.2_Start_Codon_SNP_p.M1V|ZNF28_ENST00000339844.6_Intron	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTCTTCATCATGCATTTGGAA	0.363000													56	68					0	0	0.003610	0	0
FOXB2	442425	broad.mit.edu	37	9	79635314	79635314	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:79635314G>T	ENST00000376708.1	+	1	744	c.744G>T	c.(742-744)ggG>ggT	p.G248G		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	248					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CACCCTACGGGCTGGGCTCGg	0.736000													15	16					7.93312e-07	1.00967e-06	0.002450	1	0
RPAP1	26015	broad.mit.edu	37	15	41820068	41820068	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41820068G>A	ENST00000304330.4	-	11	1534	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L	RPAP1_ENST00000561603.1_Missense_Mutation_p.P473L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	473						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCATCTCCAGGAGCCACCAG	0.582000													4	49					0	0	0.000602	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361457	105361457	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:105361457G>T	ENST00000297581.2	+	2	726	c.677G>T	c.(676-678)gGc>gTc	p.G226V	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G226V|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	226					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GTCCTGCTTGGCACTGGCCTC	0.498000													20	78					1.37522e-17	2.37367e-17	0.007413	1	0
U2AF2	11338	broad.mit.edu	37	19	56180848	56180848	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:56180848G>T	ENST00000450554.2	+	11	2030	c.1071G>T	c.(1069-1071)ccG>ccT	p.P357P	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Silent_p.P193P|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Silent_p.P361P	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	361					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGCAAGTGCCGGGCTTGATGA	0.647000													4	31					0.00909568	0.00959846	0.009096	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159075	18159075	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:18159075G>T	ENST00000396275.2	+	3	687	c.326G>T	c.(325-327)gGc>gTc	p.G109V		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	109						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TACTTTATAGGCCTAAGCATG	0.547000													35	160					3.38236e-24	6.2858e-24	0.006999	1	0
FGF16	8823	broad.mit.edu	37	X	76711990	76711990	+	Silent	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:76711990A>G	ENST00000439435.1	+	2	327	c.327A>G	c.(325-327)ccA>ccG	p.P109P				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CTCCATGTCCAGAGACCTCTT	0.502000													10	79					0	0	0.008291	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212219	26212219	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:26212219G>T	ENST00000379034.1	+	2	405	c.256G>T	c.(256-258)Gcc>Tcc	p.A86S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	86	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGATGTGGCTGCCAACGGCCA	0.542000													10	52					1.33987e-11	2.02426e-11	0.008291	1	0
PPP2R2B	5521	broad.mit.edu	37	5	145969781	145969781	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:145969781A>C	ENST00000394413.3	-	9	1631	c.1061T>G	c.(1060-1062)aTg>aGg	p.M354R	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.M354R|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.M360R|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.M343R|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.M412R|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.M354R|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.M420R|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.M343R|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.M354R|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.M357R			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	354					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGCCTGTCATGATGACACT	0.473000													23	35					0	0	0.002780	0	0
PCNX	22990	broad.mit.edu	37	14	71445031	71445031	+	Silent	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:71445031A>T	ENST00000304743.2	+	6	2423	c.1977A>T	c.(1975-1977)acA>acT	p.T659T	PCNX_ENST00000439984.3_Silent_p.T659T|PCNX_ENST00000238570.5_Silent_p.T659T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	659						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGAACACACACACAAAGCTC	0.493000													25	124					0	0	0.003330	0	0
OR14I1	401994	broad.mit.edu	37	1	248844746	248844746	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:248844746A>T	ENST00000342623.3	-	1	883	c.860T>A	c.(859-861)aTa>aAa	p.I287K		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAGACTATATATGATGGGATT	0.388000													10	67					0	0	0.008291	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971160	31971160	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:31971160C>A	ENST00000334897.3	-	1	59	c.34G>T	c.(34-36)Gac>Tac	p.D12Y		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	12						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCATGGTCGCCGTAGTAG	0.542000													102	56					3.52173e-36	6.78497e-36	0.003610	1	0
THBS2	7058	broad.mit.edu	37	6	169640673	169640673	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:169640673C>A	ENST00000366787.3	-	7	1155	c.906G>T	c.(904-906)caG>caT	p.Q302H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	302					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCAGAGAAACTGGTTATCAT	0.433000													7	32					0.00198382	0.00215484	0.001984	1	0
CBFA2T3	863	broad.mit.edu	37	16	88945811	88945811	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:88945811G>C	ENST00000268679.4	-	11	1925	c.1529C>G	c.(1528-1530)tCg>tGg	p.S510W	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.S424W|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.S472W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.S424W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.S434W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	510					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTCCGCGTCCGACACGGCTTT	0.672000			T	RUNX1	AML								18	35					0	0	0.012319	0	0
FGD5	152273	broad.mit.edu	37	3	14861743	14861743	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:14861743A>T	ENST00000285046.5	+	1	1275	c.1165A>T	c.(1165-1167)Atg>Ttg	p.M389L	FGD5_ENST00000543601.1_Missense_Mutation_p.M148L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	389					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGAGAACCCCATGGTGGGGGC	0.607000													9	49					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	216420066	216420066	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:216420066G>T	ENST00000366943.2	-	13	3056	c.2670C>A	c.(2668-2670)acC>acA	p.T890T	USH2A_ENST00000366942.3_Silent_p.T890T|USH2A_ENST00000307340.3_Silent_p.T890T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	890	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTGTCAATGGTCAAATTGT	0.473000										HNSCC(13;0.011)			22	200					8.04996e-18	1.3971e-17	0.012319	1	0
CATSPER4	378807	broad.mit.edu	37	1	26517187	26517187	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:26517187G>T	ENST00000456354.2	+	1	136	c.69G>T	c.(67-69)ggG>ggT	p.G23G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	23					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGGGCGGGACTCAGGAGG	0.597000													11	33					2.27111e-07	2.96232e-07	0.001368	1	0
CDH20	28316	broad.mit.edu	37	18	59217383	59217383	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:59217383C>A	ENST00000262717.4	+	11	2219	c.1821C>A	c.(1819-1821)agC>agA	p.S607R	CDH20_ENST00000538374.1_Missense_Mutation_p.S607R|CDH20_ENST00000536675.2_Missense_Mutation_p.S607R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	607	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGTCCTGCAGCCCAGAGGCCT	0.597000													23	42					3.62473e-10	5.23757e-10	0.012319	1	0
TYW1B	441250	broad.mit.edu	37	7	72298738	72298738	+	RNA	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:72298738A>T	ENST00000438125.1	-	0	15							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCACCGAGCTACCTCGCGGCG	0.632000													5	12					0	0	0.000602	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560608	44560608	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:44560608G>A	ENST00000289547.4	-	13	3118	c.3063C>T	c.(3061-3063)aaC>aaT	p.N1021N	NPC1L1_ENST00000546276.1_Silent_p.N975N|NPC1L1_ENST00000381160.3_Silent_p.N1021N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1021					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACATTTGATGTTGGGCCGGT	0.552000													68	183					0	0	0.003610	0	0
HCFC1	3054	broad.mit.edu	37	X	153215033	153215033	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:153215033G>T	ENST00000310441.7	-	25	7005	c.6039C>A	c.(6037-6039)gcC>gcA	p.A2013A	HCFC1_ENST00000369984.4_Silent_p.A2058A|HCFC1_ENST00000354233.3_Silent_p.A1944A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	2013					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGCTTGTTGGCTGGCTTGG	0.547000													12	170					0.000219431	0.000249985	0.002450	1	0
TENM3	55714	broad.mit.edu	37	4	183713454	183713454	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:183713454C>T	ENST00000511685.1	+	26	5752	c.5629C>T	c.(5629-5631)Cgg>Tgg	p.R1877W	TENM3_ENST00000406950.2_Missense_Mutation_p.R1877W					teneurin transmembrane protein 3																		TCATAGCCAGCGGCAGTACAT	0.498000													20	56					0	0	0.008871	0	0
CBX2	84733	broad.mit.edu	37	17	77758716	77758716	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:77758716G>T	ENST00000310942.4	+	5	1578	c.1474G>T	c.(1474-1476)Gac>Tac	p.D492Y		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	492					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GACCAGCCAGGACTGGAAGCC	0.637000													18	37					2.37509e-13	3.79774e-13	0.010504	1	0
MAMDC4	158056	broad.mit.edu	37	9	139747556	139747556	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:139747556G>T	ENST00000445819.1	+	2	99	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	MAMDC4_ENST00000317446.2_Missense_Mutation_p.G17W|MAMDC4_ENST00000485732.1_Intron			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	17					protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCAGCAGCAGGGTCCTCAGG	0.622000													18	12					1.67942e-08	2.29508e-08	0.006122	1	0
NOTCH4	4855	broad.mit.edu	37	6	32180263	32180263	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:32180263C>A	ENST00000375023.3	-	17	2806	c.2668G>T	c.(2668-2670)Gca>Tca	p.A890S	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	890	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGGCTCAGTGCAGCCTTCTGG	0.587000													109	76					4.44732e-65	8.78311e-65	0.003610	1	0
AK1	203	broad.mit.edu	37	9	130635071	130635071	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:130635071G>A	ENST00000373176.1	-	4	257	c.105C>T	c.(103-105)acC>acT	p.T35T	AK1_ENST00000373156.1_Silent_p.T35T|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.T51T	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	35					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						TGGAGAGGTGGGTGTAGCCAT	0.617000													5	41					0	0	0.000602	0	0
NDUFB11	54539	broad.mit.edu	37	X	47002067	47002067	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:47002067A>T	ENST00000377811.3	-	2	1108	c.284T>A	c.(283-285)gTc>gAc	p.V95D	NDUFB11_ENST00000276062.8_Missense_Mutation_p.V95D	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	95					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GATGATGGAGACGCCAAAGAA	0.532000													23	67					0	0	0.003330	0	0
AADACL4	343066	broad.mit.edu	37	1	12711243	12711243	+	Silent	SNP	C	C	A	rs140616597		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:12711243C>A	ENST00000376221.1	+	2	270	c.270C>A	c.(268-270)acC>acA	p.T90T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	90						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTGTGGTGACCGACCTGCGTT	0.502000													27	42					2.79863e-10	4.08134e-10	0.004656	1	0
MORN1	79906	broad.mit.edu	37	1	2288985	2288985	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:2288985C>T	ENST00000378531.3	-	10	1095	c.922G>A	c.(922-924)Ggg>Agg	p.G308R	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.G308R	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	308										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCTCTGGGCCCCGGCACCCCA	0.652000													32	97					0	0	0.002836	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662000													4	128					0	0	0.000602	0	0
TDRD10	126668	broad.mit.edu	37	1	154519884	154519884	+	Splice_Site	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:154519884G>C	ENST00000368482.4	+	12	1790		c.e12-1		TDRD10_ENST00000479937.1_Splice_Site|TDRD10_ENST00000368480.3_Splice_Site	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10								nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGTTTTGCAGACATTTTGAG	0.512000													10	79					0	0	0.008291	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588531	138588531	+	Silent	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:138588531C>G	ENST00000298466.5	-	5	648	c.588G>C	c.(586-588)acG>acC	p.T196T	SOHLH1_ENST00000425225.1_Silent_p.T196T	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	196					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TGCCCAGGGACGTGCAGCTCG	0.667000													17	26					0	0	0.004990	0	0
ADH1A	124	broad.mit.edu	37	4	100212093	100212093	+	Translation_Start_Site	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:100212093G>T	ENST00000209668.2	-	0	92				RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000509939.1_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide						ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTTCTCTGCAGACCAGGAGAC	0.348000													26	64					7.26314e-15	1.19161e-14	0.007291	1	0
IGFBP5	3488	broad.mit.edu	37	2	217541567	217541567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:217541567C>T	ENST00000233813.4	-	4	1475	c.726G>A	c.(724-726)tgG>tgA	p.W242*		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	242	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACGCACCAGCAGATGC	0.617000													5	129					0	0	0.001168	0	0
SERPINB9	5272	broad.mit.edu	37	6	2892184	2892184	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:2892184G>A	ENST00000380698.4	-	6	695	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	202					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTTAAACGTGGCCTCCTGAT	0.577000													8	115					0	0	0.006214	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219612	134219612	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:134219612G>T	ENST00000305233.5	+	2	1667	c.1608G>T	c.(1606-1608)acG>acT	p.T536T	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	536	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CTCCGACTACGTCGTTCTTGT	0.498000													35	54					7.11191e-15	1.16984e-14	0.002836	1	0
TIGIT	201633	broad.mit.edu	37	3	114014612	114014612	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:114014612C>T	ENST00000481065.1	+	3	3098	c.483C>T	c.(481-483)acC>acT	p.T161T	TIGIT_ENST00000486257.1_Silent_p.T94T|TIGIT_ENST00000383671.3_Silent_p.T94T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	94					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGGGCCTCACCCTCCAGTCGC	0.577000													14	50					0	0	0.001855	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914478	111914478	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:111914478G>A	ENST00000371968.3	-	2	380	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.F47F	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	47						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TGCACCTCCGGAATGTGCTGA	0.542000													14	233					0	0	0.002450	0	0
RIT2	6014	broad.mit.edu	37	18	40503541	40503541	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:40503541C>T	ENST00000589109.1	-	4	593	c.422G>A	c.(421-423)cGc>cAc	p.R141H	RIT2_ENST00000282028.4_Missense_Mutation_p.R141H|RIT2_ENST00000590910.1_Missense_Mutation_p.A162T|RIT2_ENST00000326695.5_Missense_Mutation_p.R141H	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	141					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						ACTCACCTGGCGGAACTGTTC	0.458000													24	191					0	0	0.003954	0	0
PRKG2	5593	broad.mit.edu	37	4	82031648	82031648	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:82031648C>A	ENST00000395578.1	-	15	2010	c.1894G>T	c.(1894-1896)Gat>Tat	p.D632Y	PRKG2_ENST00000545647.1_Missense_Mutation_p.D212Y|PRKG2_ENST00000418486.2_Missense_Mutation_p.D603Y|PRKG2_ENST00000264399.1_Missense_Mutation_p.D632Y|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	632	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GACCAGAAATCCACACTGAAG	0.428000													8	35					5.4927e-09	7.65576e-09	0.004482	1	0
OR4C46	119749	broad.mit.edu	37	11	51515557	51515557	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:51515557C>A	ENST00000328188.1	+	1	276	c.276C>A	c.(274-276)ttC>ttA	p.F92L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATCCTATTCAATGGATGCA	0.463000													52	122					1.51926e-22	2.79863e-22	0.003610	1	0
TAS1R2	80834	broad.mit.edu	37	1	19180949	19180949	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:19180949G>T	ENST00000375371.3	-	3	1036	c.1015C>A	c.(1015-1017)Cgc>Agc	p.R339S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	339					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCCACTCGCGGAACTCACTG	0.652000													10	44					1.58986e-06	1.99525e-06	0.008291	1	0
MINA	84864	broad.mit.edu	37	3	97686352	97686352	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:97686352C>A	ENST00000333396.6	-	2	668	c.86G>T	c.(85-87)gGg>gTg	p.G29V	MINA_ENST00000360258.4_Missense_Mutation_p.G29V|MINA_ENST00000330299.2_Missense_Mutation_p.G29V|MINA_ENST00000394198.2_Missense_Mutation_p.G29V	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	29					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						AGCTGAAGGCCCCCCAGCTGC	0.483000													10	51					2.17888e-05	2.58025e-05	0.006214	1	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933445	31933445	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:31933445C>A	ENST00000334849.2	-	1	188	c.164G>T	c.(163-165)gGg>gTg	p.G55V		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	55						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGTATCCCCCATAGCATGA	0.453000													140	89					5.62954e-76	1.12235e-75	0.003610	1	0
OR10A4	283297	broad.mit.edu	37	11	6898303	6898303	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:6898303G>T	ENST00000379829.2	+	1	448	c.425G>T	c.(424-426)tGt>tTt	p.C142F		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACATATCCTGTGCCCAGCTG	0.572000													23	78					1.87028e-06	2.33785e-06	0.012319	1	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510025	77510025	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:77510025G>T	ENST00000477717.1	+	3	633	c.398G>T	c.(397-399)cGt>cTt	p.R133L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	133					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GGCTATGGGCGTGACGTGGGC	0.622000													26	59					3.73808e-20	6.80633e-20	0.005443	1	0
ITIH3	3699	broad.mit.edu	37	3	52840398	52840398	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:52840398C>A	ENST00000449956.2	+	18	2038	c.2032C>A	c.(2032-2034)Cgc>Agc	p.R678S	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				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)		CACAGTGCTGCGCCTTATTCA	0.612000													13	30					9.16793e-09	1.26109e-08	0.004990	1	0
FLNC	2318	broad.mit.edu	37	7	128488078	128488078	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:128488078C>T	ENST00000325888.8	+	26	4797	c.4536C>T	c.(4534-4536)ccC>ccT	p.P1512P	FLNC_ENST00000346177.6_Silent_p.P1512P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1512					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGACGGGCCCTACACGGTAG	0.662000													6	12					0	0	0.001168	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857480	29857480	+	Missense_Mutation	SNP	G	G	T	rs147400342		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:29857480G>T	ENST00000325874.8	+	14	2019	c.1790G>T	c.(1789-1791)cGc>cTc	p.R597L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R495L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	597	FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				ACCGCCTCGCGCGATGAGGTA	0.587000													16	94					3.41278e-10	4.95404e-10	0.004990	1	0
PLA2R1	22925	broad.mit.edu	37	2	160833814	160833814	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:160833814C>A	ENST00000283243.7	-	15	2588	c.2382G>T	c.(2380-2382)tgG>tgT	p.W794C	PLA2R1_ENST00000392771.1_Missense_Mutation_p.W794C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	794	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTTGCATATCCATTCACGTT	0.348000													14	26					2.61681e-11	3.9159e-11	0.002450	1	0
SRBD1	55133	broad.mit.edu	37	2	45616508	45616508	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:45616508C>A	ENST00000263736.4	-	21	2991	c.2929G>T	c.(2929-2931)Gta>Tta	p.V977L	SRBD1_ENST00000535761.1_Missense_Mutation_p.V496L|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	977	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATGTTGAGTACTTGGACTTCC	0.448000													18	52					1.00905e-13	1.62168e-13	0.008871	1	0
PRPF40B	25766	broad.mit.edu	37	12	50029645	50029645	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:50029645G>T	ENST00000261897.1	+	14	1762	c.1211G>T	c.(1210-1212)cGg>cTg	p.R404L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R432L|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R410L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	410					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGCAGCTCCGGCGCCGCAAT	0.597000													14	26					9.31168e-06	1.13469e-05	0.001855	1	0
CEP104	9731	broad.mit.edu	37	1	3740027	3740027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:3740027C>A	ENST00000378230.3	-	19	2788	c.2464G>T	c.(2464-2466)Gaa>Taa	p.E822*		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	822						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGCAGCTCTTCCTTGAAAACA	0.542000													32	95					4.74835e-14	7.67042e-14	0.010818	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627645	43627645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:43627645C>A	ENST00000332857.6	-	4	1070	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GTAAATGATCCAACATTTTCT	0.423000													103	73					2.97704e-61	5.84279e-61	0.003610	1	0
RYR3	6263	broad.mit.edu	37	15	34072493	34072493	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:34072493C>A	ENST00000389232.4	+	65	9289	c.9219C>A	c.(9217-9219)cgC>cgA	p.R3073R	RYR3_ENST00000415757.3_Silent_p.R3073R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3073					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCTTAATCGCTACAATCCAC	0.537000													7	14					8.12818e-05	9.34445e-05	0.001984	1	0
BAI3	577	broad.mit.edu	37	6	70071353	70071353	+	Silent	SNP	A	A	T	rs144565451	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:70071353A>T	ENST00000370598.1	+	29	5009	c.4188A>T	c.(4186-4188)gcA>gcT	p.A1396A	BAI3_ENST00000238918.8_Silent_p.A602A|BAI3_ENST00000546190.1_Silent_p.A360A	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1396					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGATAATGCAGGACTATCAA	0.403000													19	34					0	0	0.008871	0	0
OR14C36	127066	broad.mit.edu	37	1	248512288	248512288	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:248512288A>T	ENST00000317861.1	+	1	212	c.212A>T	c.(211-213)tAc>tTc	p.Y71F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GATGCCTGCTACATTTCTGTT	0.488000													31	146					0	0	0.009535	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223982	142223982	+	RNA	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:142223982G>T	ENST00000390367.3	-	0	201																											CAGAAGCTCCGGGCCCTGTCC	0.478000													25	71					3.6726e-16	6.18647e-16	0.003954	1	0
INSRR	3645	broad.mit.edu	37	1	156811916	156811916	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:156811916C>A	ENST00000368195.3	-	19	3781	c.3385G>T	c.(3385-3387)Gtc>Ttc	p.V1129F	NTRK1_ENST00000392302.2_Missense_Mutation_p.T18K	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1129	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGATCTTGACGGTGAAGTCC	0.587000													8	55					3.09899e-07	3.98441e-07	0.004482	1	0
RIOK3	8780	broad.mit.edu	37	18	21057143	21057143	+	Splice_Site	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:21057143G>T	ENST00000339486.3	+	11	1872	c.1254_splice	c.e11-1	p.V419_splice	RIOK3_ENST00000581585.1_Splice_Site_p.V403_splice|RIOK3_ENST00000577501.1_Splice_Site_p.V419_splice	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	419	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTGAAATAGGTCTGGTTGAT	0.413000													21	49					1.28384e-07	1.68504e-07	0.012319	1	0
ANO3	63982	broad.mit.edu	37	11	26463584	26463584	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:26463584C>A	ENST00000256737.3	+	2	1018	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	ANO3_ENST00000525139.1_Missense_Mutation_p.L40I|ANO3_ENST00000537978.1_Missense_Mutation_p.L40I|ANO3_ENST00000531646.1_Missense_Mutation_p.L56I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	56						chloride channel complex	chloride channel activity	p.L56F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTCTACTTCCCTCTTCCAGTC	0.473000													47	159					7.77372e-23	1.4362e-22	0.003610	1	0
SETBP1	26040	broad.mit.edu	37	18	42530368	42530368	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:42530368G>T	ENST00000282030.5	+	4	1359	c.1063G>T	c.(1063-1065)Gtc>Ttc	p.V355F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	355						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGGATTGGGTCAAGAATGC	0.488000									Schinzel-Giedion syndrome				16	82					5.01169e-05	5.84698e-05	0.004990	1	0
NDUFS4	4724	broad.mit.edu	37	5	52979007	52979007	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:52979007G>T	ENST00000296684.5	+	5	512	c.484G>T	c.(484-486)Gca>Tca	p.A162S		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	162					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	GTCTTATGGTGCAAACTTTTC	0.388000													51	66					4.44712e-29	8.43882e-29	0.003610	1	0
IMPDH1	3614	broad.mit.edu	37	7	128034398	128034398	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:128034398C>T	ENST00000338791.6	-	16	2062	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	IMPDH1_ENST00000378717.4_Missense_Mutation_p.G502E|IMPDH1_ENST00000348127.6_Missense_Mutation_p.G535E|IMPDH1_ENST00000354269.5_Missense_Mutation_p.G561E|IMPDH1_ENST00000343214.4_Missense_Mutation_p.G461E|IMPDH1_ENST00000480861.1_Missense_Mutation_p.G481E|IMPDH1_ENST00000470772.1_Missense_Mutation_p.G485E|IMPDH1_ENST00000496200.1_Missense_Mutation_p.G461E|IMPDH1_ENST00000419067.2_Missense_Mutation_p.G538E	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	486					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)	CTTGAGCTCTCCTGAGTACAT	0.577000													8	81					0	0	0.004482	0	0
NID2	22795	broad.mit.edu	37	14	52505539	52505539	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:52505539C>A	ENST00000216286.5	-	9	2182	c.2183G>T	c.(2182-2184)cGg>cTg	p.R728L	NID2_ENST00000541773.1_Missense_Mutation_p.R675L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	728	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGCAAAGACCCGGTCCACGTT	0.522000													20	76					5.26018e-13	8.28478e-13	0.012319	1	0
DOCK4	9732	broad.mit.edu	37	7	111430661	111430661	+	Splice_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:111430661C>A	ENST00000428084.1	-	31	3439	c.3166_splice	c.e31-1	p.G1056_splice	DOCK4_ENST00000437633.1_Splice_Site_p.G1056_splice			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1056					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTGTGCTCTCCTAAAGTGAG	0.323000													7	17					8.12818e-05	9.34445e-05	0.001984	1	0
FAT2	2196	broad.mit.edu	37	5	150946570	150946570	+	Silent	SNP	T	T	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:150946570T>G	ENST00000261800.5	-	1	1935	c.1923A>C	c.(1921-1923)acA>acC	p.T641T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	641	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCTGAGGCTGTAATCTTCA	0.413000													25	24					0	0	0.003954	0	0
LDHA	3939	broad.mit.edu	37	11	18421090	18421090	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:18421090G>T	ENST00000422447.3	+	3	512	c.239G>T	c.(238-240)gGc>gTc	p.G80V	LDHA_ENST00000227157.4_Missense_Mutation_p.G80V|LDHA_ENST00000379412.5_Missense_Mutation_p.G80V|LDHA_ENST00000396222.2_Missense_Mutation_p.G80V|LDHA_ENST00000540430.1_Missense_Mutation_p.G109V|LDHA_ENST00000430553.2_Missense_Mutation_p.G80V|LDHA_ENST00000542179.1_Missense_Mutation_p.G80V	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	80					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	ATTGTCTCTGGCAAAGGTTGA	0.393000													11	55					3.07112e-06	3.79373e-06	0.010729	1	0
ZNF560	147741	broad.mit.edu	37	19	9578679	9578679	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:9578679C>T	ENST00000301480.4	-	10	1157	c.944G>A	c.(943-945)aGt>aAt	p.S315N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTTTCTCCACTCTGAGTTTT	0.398000													6	82					0	0	0.001168	0	0
MYO9B	4650	broad.mit.edu	37	19	17313008	17313008	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:17313008A>G	ENST00000595618.1	+	28	4884	c.4732A>G	c.(4732-4734)Act>Gct	p.T1578A	MYO9B_ENST00000594824.1_Missense_Mutation_p.T1578A|MYO9B_ENST00000397274.2_Missense_Mutation_p.T1578A	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1578	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAACCTGGCCACTGAGCGTGG	0.562000													17	12					0	0	0.006122	0	0
COL11A2	1302	broad.mit.edu	37	6	33151934	33151934	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:33151934G>T	ENST00000341947.2	-	8	1334	c.1107C>A	c.(1105-1107)gcC>gcA	p.A369A	COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374713.1_Silent_p.A322A|COL11A2_ENST00000374714.1_Silent_p.A343A|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000357486.1_Silent_p.A348A|COL11A2_ENST00000374712.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	369	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTCCTGAGTGGGCTGTCTCCG	0.532000													6	119					0.00116845	0.00128468	0.001168	1	0
CUEDC1	404093	broad.mit.edu	37	17	55950963	55950963	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:55950963C>A	ENST00000577830.1	-	4	993	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	CUEDC1_ENST00000360238.2_Missense_Mutation_p.D194Y|CUEDC1_ENST00000577840.1_Missense_Mutation_p.D57Y|CUEDC1_ENST00000407144.2_Missense_Mutation_p.D194Y	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	194										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGTATGCTGTCCAGCTGCTGG	0.587000													26	69					3.28513e-13	5.21317e-13	0.003954	1	0
PTPN23	25930	broad.mit.edu	37	3	47450286	47450286	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:47450286G>A	ENST00000265562.4	+	16	1428	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	PTPN23_ENST00000431726.1_Missense_Mutation_p.D325N	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	451					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGTTCACGGATGTGGAGGC	0.612000													23	85					0	0	0.002780	0	0
FAM208B	54906	broad.mit.edu	37	10	5791121	5791121	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:5791121G>C	ENST00000328090.5	+	15	6362	c.5737G>C	c.(5737-5739)Gtc>Ctc	p.V1913L		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1913																	GCCGCCTTACGTCCAAATCCG	0.542000													12	30					0	0	0.010729	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95726882	95726882	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:95726882G>T	ENST00000324972.6	+	17	2108	c.1915G>T	c.(1915-1917)Ggc>Tgc	p.G639C	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G602C|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G622C|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G619C|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G622C	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	639					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGAGGAGGAAGGCACTGTTGA	0.512000													14	47					1.49906e-05	1.79887e-05	0.002450	1	0
ZNF516	9658	broad.mit.edu	37	18	74091856	74091856	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:74091856C>A	ENST00000443185.2	-	4	2531	c.2214G>T	c.(2212-2214)agG>agT	p.R738S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCGCGTCGACCTCGCACTTA	0.592000													37	25					1.836e-18	3.22195e-18	0.003755	1	0
RYR1	6261	broad.mit.edu	37	19	38933001	38933001	+	Missense_Mutation	SNP	G	G	A	rs118192160		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:38933001G>A	ENST00000355481.4	+	3	309	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RYR1_ENST00000359596.3_Missense_Mutation_p.D60N|RYR1_ENST00000360985.3_Missense_Mutation_p.D60N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	60					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)	TGTGCCCCCCGATCTGGCCAT	0.632000													18	97					0	0	0.007413	0	0
NKD2	85409	broad.mit.edu	37	5	1034410	1034410	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:1034410T>C	ENST00000296849.5	+	6	620	c.391T>C	c.(391-393)Tat>Cat	p.Y131H	NKD2_ENST00000537972.1_Missense_Mutation_p.Y131H|NKD2_ENST00000274150.4_Missense_Mutation_p.Y131H	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	131	EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GTTCACGCTCTATGACTTTGA	0.622000													16	67					0	0	0.012319	0	0
RYR2	6262	broad.mit.edu	37	1	237729937	237729937	+	Silent	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:237729937A>T	ENST00000366574.2	+	28	3602	c.3285A>T	c.(3283-3285)gcA>gcT	p.A1095A	RYR2_ENST00000360064.6_Silent_p.A1093A|RYR2_ENST00000542537.1_Silent_p.A1079A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1095	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACCTATGCAGTGAAGGCCG	0.557000													77	79					0	0	0.003610	0	0
MUC6	4588	broad.mit.edu	37	11	1025222	1025222	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:1025222C>T	ENST00000421673.2	-	23	2995	c.2945G>A	c.(2944-2946)aGg>aAg	p.R982K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	982	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCATGTGCCTGTTCCAGAT	0.657000													61	153					0	0	0.003610	0	0
BRCA1	672	broad.mit.edu	37	17	41234513	41234513	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:41234513C>A	ENST00000309486.4	-	11	4404	c.3377G>T	c.(3376-3378)gGg>gTg	p.G1126V	BRCA1_ENST00000491747.2_Missense_Mutation_p.G319V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1422V|BRCA1_ENST00000352993.3_Missense_Mutation_p.G280V|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1375V|BRCA1_ENST00000351666.3_Missense_Mutation_p.G239V|BRCA1_ENST00000354071.3_Missense_Mutation_p.G1422V|BRCA1_ENST00000346315.3_Missense_Mutation_p.G1422V|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1422V|BRCA1_ENST00000468300.1_Missense_Mutation_p.G319V|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1422					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCTGGCTCCCATGCTGTTC	0.453000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			25	67					2.79863e-10	4.08134e-10	0.004656	1	0
MOCOS	55034	broad.mit.edu	37	18	33775249	33775249	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:33775249A>T	ENST00000261326.5	+	2	193	c.172A>T	c.(172-174)Acc>Tcc	p.T58S		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	58					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TGCAGGTGCCACCTTGTTCTC	0.388000													56	87					0	0	0.003610	0	0
PVRL1	5818	broad.mit.edu	37	11	119548513	119548513	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:119548513C>A	ENST00000264025.3	-	3	1015	c.485G>T	c.(484-486)gGg>gTg	p.G162V	PVRL1_ENST00000341398.2_Missense_Mutation_p.G162V|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.G162V	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	162	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTCATCCTGCCCCTTCTTGGC	0.562000													13	30					1.49906e-05	1.79887e-05	0.002450	1	0
OLIG2	10215	broad.mit.edu	37	21	34399437	34399437	+	Silent	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:34399437G>C	ENST00000333337.3	+	1	1195	c.267G>C	c.(265-267)gcG>gcC	p.A89A	OLIG2_ENST00000382357.3_Silent_p.A89A|AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	89						cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						CGTCGTCGGCGGCTGCGTCGT	0.632000			T	TRA@	T-ALL								6	10					0	0	0.001168	0	0
MEGF6	1953	broad.mit.edu	37	1	3427376	3427376	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:3427376C>A	ENST00000356575.4	-	10	1431	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	MEGF6_ENST00000294599.4_Missense_Mutation_p.R297L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	402	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCACTGAGCCGGTAGCCGGC	0.672000													23	48					1.66031e-10	2.44963e-10	0.003954	1	0
LRRC14B	389257	broad.mit.edu	37	5	195279	195279	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:195279C>A	ENST00000328278.3	+	2	1384	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	452										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AGAAATACGACGAGATCGCCG	0.592000													42	187					4.07013e-28	7.70025e-28	0.008740	1	0
GRID1	2894	broad.mit.edu	37	10	87628790	87628790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:87628790C>A	ENST00000327946.7	-	6	1013	c.928G>T	c.(928-930)Gaa>Taa	p.E310*		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	310						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGTAGCCTTCCTGGGGGTCG	0.577000										Multiple Myeloma(13;0.14)			25	54					1.1804e-14	1.93156e-14	0.003954	1	0
NLRP7	199713	broad.mit.edu	37	19	55450993	55450993	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:55450993G>T	ENST00000446217.1	-	6	1680	c.1278C>A	c.(1276-1278)ctC>ctA	p.L426L	NLRP7_ENST00000340844.2_Silent_p.L398L|NLRP7_ENST00000448121.2_Silent_p.L398L|NLRP7_ENST00000592784.1_Silent_p.L398L|NLRP7_ENST00000588756.1_Silent_p.L398L|NLRP7_ENST00000590030.1_Silent_p.L398L|NLRP7_ENST00000328092.5_Silent_p.L398L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	398	NACHT.						ATP binding	p.L398L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACCGGCTGCAGAGGAAACGCA	0.692000													7	20					1.58986e-06	1.99525e-06	0.008291	1	0
SLC6A2	6530	broad.mit.edu	37	16	55703493	55703493	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:55703493G>A	ENST00000379906.2	+	2	546	c.291G>A	c.(289-291)ccG>ccA	p.P97P	SLC6A2_ENST00000568943.1_Silent_p.P97P|SLC6A2_ENST00000219833.8_Silent_p.P97P|SLC6A2_ENST00000566163.1_Silent_p.P97P|SLC6A2_ENST00000561820.1_Silent_p.P97P|SLC6A2_ENST00000414754.3_Silent_p.P97P	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	97					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTGATCCCGTACACACTGT	0.577000													5	74					0	0	0.001168	0	0
AFF2	2334	broad.mit.edu	37	X	148039929	148039929	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:148039929C>A	ENST00000370460.2	+	12	3110	c.2631C>A	c.(2629-2631)atC>atA	p.I877I	AFF2_ENST00000370457.5_Silent_p.I844I|AFF2_ENST00000286437.5_Silent_p.I518I|AFF2_ENST00000342251.3_Silent_p.I844I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	877					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAACTATCTGCTTGCTCC	0.512000													160	190					5.70634e-75	1.13407e-74	0.003610	1	0
ANK3	288	broad.mit.edu	37	10	62149354	62149354	+	Translation_Start_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:62149354C>A	ENST00000280772.1	-	0	134				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGTGATATCCTCAGGCACCT	0.413000													7	36					0.00198382	0.00215484	0.001984	1	0
TP53I11	9537	broad.mit.edu	37	11	44956479	44956479	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:44956479T>A	ENST00000533940.1	-	10	1130	c.526A>T	c.(526-528)Att>Ttt	p.I176F	TP53I11_ENST00000525680.1_Missense_Mutation_p.I176F|TP53I11_ENST00000395648.3_Missense_Mutation_p.I176F|TP53I11_ENST00000308212.5_Missense_Mutation_p.I176F	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	176					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						TAGTAGTAAATGCTGATGACG	0.627000													26	67					0	0	0.003330	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425505	25425505	+	RNA	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:25425505G>T	ENST00000441592.2	+	0	493																											CCCCAGGCCAGTGTCTCTCAG	0.607000													15	21					1.49906e-05	1.79887e-05	0.002450	1	0
KIF4B	285643	broad.mit.edu	37	5	154396536	154396536	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:154396536G>C	ENST00000435029.4	+	1	3277	c.3117G>C	c.(3115-3117)atG>atC	p.M1039I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1039	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAAAGCATGGACATCGAGG	0.418000													35	33					0	0	0.002836	0	0
DCDC1	341019	broad.mit.edu	37	11	31312234	31312234	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:31312234T>A	ENST00000597505.1	-	5	919	c.920A>T	c.(919-921)gAt>gTt	p.D307V	DCDC1_ENST00000452803.1_Missense_Mutation_p.D307V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	307					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTCATGCCCATCCTGCCCCAT	0.343000													9	49					0	0	0.006214	0	0
PEX2	5828	broad.mit.edu	37	8	77895700	77895700	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:77895700T>A	ENST00000419564.2	-	4	1179	c.715A>T	c.(715-717)Acc>Tcc	p.T239S	PEX2_ENST00000357039.4_Missense_Mutation_p.T239S|PEX2_ENST00000520103.1_Missense_Mutation_p.T239S|PEX2_ENST00000522527.1_Missense_Mutation_p.T239S	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	239					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TTGCCACTGGTGGCTAATGTA	0.428000													7	78					0	0	0.001984	0	0
GRM1	2911	broad.mit.edu	37	6	146719925	146719925	+	Missense_Mutation	SNP	C	C	T	rs146996893		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:146719925C>T	ENST00000392299.2	+	8	2220	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	GRM1_ENST00000355289.4_Missense_Mutation_p.R584C|GRM1_ENST00000282753.1_Missense_Mutation_p.R584C|GRM1_ENST00000492807.2_Missense_Mutation_p.R584C|GRM1_ENST00000507907.1_Missense_Mutation_p.R584C|GRM1_ENST00000361719.2_Missense_Mutation_p.R584C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	584					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CATTCCTGTGCGCTATCTTGA	0.423000													7	174					0	0	0.001984	0	0
CHL1	10752	broad.mit.edu	37	3	447382	447382	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:447382C>A	ENST00000256509.2	+	28	4305	c.3663C>A	c.(3661-3663)ccC>ccA	p.P1221P	CHL1_ENST00000397491.2_Silent_p.P1205P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1205					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAACTTTTCCCCTTCGGGCAT	0.418000													9	20					0.000274275	0.00030856	0.004482	1	0
COG5	10466	broad.mit.edu	37	7	107204403	107204403	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:107204403G>T	ENST00000393603.2	-	1	303	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	COG5_ENST00000297135.3_Missense_Mutation_p.S11Y|COG5_ENST00000347053.3_Missense_Mutation_p.S11Y|DUS4L_ENST00000265720.3_5'UTR|DUS4L_ENST00000498786.1_Intron	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	11					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TGGTGACGCAGAATCCCGGCG	0.701000													7	14					3.09899e-07	3.98441e-07	0.004482	1	0
CNGB3	54714	broad.mit.edu	37	8	87679339	87679339	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:87679339G>T	ENST00000320005.5	-	6	713	c.666C>A	c.(664-666)ctC>ctA	p.L222L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	222					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGACAAGCAAGAGCCACAGGA	0.438000													12	34					5.50884e-06	6.75208e-06	0.001368	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								6	65					0	0	0.001168	0	0
NCOR1	9611	broad.mit.edu	37	17	16068441	16068441	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:16068441G>A	ENST00000268712.3	-	5	727	c.470C>T	c.(469-471)tCc>tTc	p.S157F	NCOR1_ENST00000395848.1_Missense_Mutation_p.S48F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S157F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	157	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATTGGAGAGGATGGAGCTTC	0.393000													6	81					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179598167	179598167	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:179598167C>T	ENST00000589042.1	-	54	16077	c.15853G>A	c.(15853-15855)Gca>Aca	p.A5285T	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A4041T|TTN_ENST00000591111.1_Missense_Mutation_p.A4968T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4968	Ig-like 33.						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)			GGCGTGCCTGCCACTGTGTAC	0.468000													7	195					0	0	0.004482	0	0
MECOM	2122	broad.mit.edu	37	3	169099123	169099123	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:169099123A>C	ENST00000494292.1	-	2	324	c.227T>G	c.(226-228)aTt>aGt	p.I76S	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	76							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCAGCAGGAATGGGGATATC	0.473000													25	80					0	0	0.003330	0	0
RPAP1	26015	broad.mit.edu	37	15	41822157	41822157	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41822157G>A	ENST00000304330.4	-	8	1080	c.964C>T	c.(964-966)Cct>Tct	p.P322S	RPAP1_ENST00000561603.1_Missense_Mutation_p.P322S|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	322						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCTTTCTGAGGGGTCACGGGC	0.592000													8	23					0	0	0.004482	0	0
CUX2	23316	broad.mit.edu	37	12	111785481	111785481	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:111785481C>A	ENST00000261726.6	+	22	3967	c.3813C>A	c.(3811-3813)acC>acA	p.T1271T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGAAGCCAACCGTGAAGGAAC	0.617000													12	43					0.00010058	0.00011521	0.001368	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735071	55735071	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:55735071A>T	ENST00000312345.2	-	1	919	c.869T>A	c.(868-870)gTg>gAg	p.V290E		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCTCAATGCCACCATGATATC	0.328000													7	37					0	0	0.006214	0	0
RPAP1	26015	broad.mit.edu	37	15	41823359	41823359	+	Nonsense_Mutation	SNP	G	G	A	rs78256246		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41823359G>A	ENST00000304330.4	-	7	921	c.805C>T	c.(805-807)Caa>Taa	p.Q269*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.Q269*|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	269						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTTTGCTCTTGCGTGTGGCTG	0.562000													50	158					0	0	0.003610	0	0
ERMN	57471	broad.mit.edu	37	2	158178139	158178139	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:158178139G>T	ENST00000410096.1	-	3	790	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	ERMN_ENST00000397283.2_Missense_Mutation_p.Q180K|ERMN_ENST00000420719.2_Missense_Mutation_p.Q147K|ERMN_ENST00000535935.1_Missense_Mutation_p.Q61K	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	167						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						ATGTCAGCTTGGCTAGGTTTT	0.408000													43	66					8.20599e-20	1.48557e-19	0.011902	1	0
GABRG3	2567	broad.mit.edu	37	15	27572044	27572044	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:27572044G>T	ENST00000333743.6	+	4	613	c.359G>T	c.(358-360)aGc>aTc	p.S120I	GABRG3_ENST00000555083.1_Missense_Mutation_p.S120I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	120					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACTCTGAACAGCAACATGGTG	0.458000													23	57					3.01185e-09	4.21659e-09	0.003954	1	0
LAMA3	3909	broad.mit.edu	37	18	21485527	21485527	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:21485527G>T	ENST00000313654.9	+	52	6898	c.6657G>T	c.(6655-6657)ctG>ctT	p.L2219L	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L554L|LAMA3_ENST00000269217.6_Silent_p.L610L|LAMA3_ENST00000399516.3_Silent_p.L2163L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2219	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTAAAACCCTGAGTTCCAACA	0.393000													27	50					3.65163e-15	6.03813e-15	0.006320	1	0
PCDHA13	56136	broad.mit.edu	37	5	140263343	140263343	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:140263343G>T	ENST00000289272.2	+	1	1490	c.1490G>T	c.(1489-1491)cGg>cTg	p.R497L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R497L|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAGCGGCGGGTGGGC	0.662000													78	48					1.71382e-40	3.33243e-40	0.003610	1	0
ZIM2	23619	broad.mit.edu	37	19	57293363	57293363	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:57293363T>A	ENST00000391708.3	-	10	1146	c.604A>T	c.(604-606)Agg>Tgg	p.R202W	ZIM2_ENST00000601070.1_Missense_Mutation_p.R202W|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R202W|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R202W|ZIM2_ENST00000599935.1_Missense_Mutation_p.R202W	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ATCACCTCCCTGTAGAGGTTT	0.512000													12	105					0	0	0.001368	0	0
LCE2D	353141	broad.mit.edu	37	1	152636901	152636901	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:152636901G>T	ENST00000368784.1	+	2	375	c.320G>T	c.(319-321)gGg>gTg	p.G107V		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	107	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGCTCTGGGGGCTGCTGC	0.592000													24	147					2.21704e-12	3.39837e-12	0.002780	1	0
SLC7A9	11136	broad.mit.edu	37	19	33355045	33355045	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:33355045C>A	ENST00000023064.4	-	4	626	c.435G>T	c.(433-435)aaG>aaT	p.K145N	SLC7A9_ENST00000587772.1_Missense_Mutation_p.K145N|SLC7A9_ENST00000590341.1_Missense_Mutation_p.K145N	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	145					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TTTGAGGAGGCTTGCAGCCCA	0.592000													9	35					0.00010058	0.00011521	0.001368	1	0
INSC	387755	broad.mit.edu	37	11	15267485	15267485	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:15267485T>C	ENST00000379554.3	+	13	1685	c.1639T>C	c.(1639-1641)Tgc>Cgc	p.C547R	INSC_ENST00000525218.1_Missense_Mutation_p.C458R|INSC_ENST00000424273.1_Missense_Mutation_p.C458R|INSC_ENST00000379556.3_Missense_Mutation_p.C500R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.C500R|INSC_ENST00000528567.1_3'UTR	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	547					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCTGGGGTCTGCCCTGAAGG	0.547000													26	102					0	0	0.003954	0	0
MAST3	23031	broad.mit.edu	37	19	18235570	18235570	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:18235570A>T	ENST00000262811.5	+	10	977	c.977A>T	c.(976-978)aAg>aTg	p.K326M		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	326							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCCTGGCCAAGGACCCCCTG	0.612000													11	25					0	0	0.010729	0	0
CPA6	57094	broad.mit.edu	37	8	68421816	68421816	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:68421816G>A	ENST00000297770.4	-	5	685	c.470C>T	c.(469-471)tCa>tTa	p.S157L	CPA6_ENST00000297769.4_Missense_Mutation_p.S9L|CPA6_ENST00000518549.1_Missense_Mutation_p.S157L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	157					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AATGAGGCCTGAGTGAGTTTT	0.303000													11	42					0	0	0.001368	0	0
OR4C15	81309	broad.mit.edu	37	11	55322784	55322784	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:55322784G>T	ENST00000314644.2	+	1	1002	c.1002G>T	c.(1000-1002)ttG>ttT	p.L334F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TAAATCCCTTGCTCAATCCTT	0.363000										HNSCC(20;0.049)			22	87					3.62473e-10	5.23757e-10	0.012319	1	0
PTGR1	22949	broad.mit.edu	37	9	114348369	114348369	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:114348369T>C	ENST00000407693.2	-	5	548	c.286A>G	c.(286-288)Att>Gtt	p.I96V	PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000309195.5_Missense_Mutation_p.I96V|PTGR1_ENST00000538962.1_Missense_Mutation_p.I96V	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	96					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CCATCAGAAATGGAGTGCGTT	0.473000													28	53					0	0	0.005443	0	0
AKR1C4	1109	broad.mit.edu	37	10	5258743	5258743	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:5258743G>A	ENST00000380448.1	+	10	1169	c.916G>A	c.(916-918)Gtt>Att	p.V306I	AKR1C4_ENST00000263126.1_Missense_Mutation_p.V306I			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	306					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TTATCGATATGTTGTCATGGA	0.348000													3	12					0	0	0.004672	0	0
FBXL7	23194	broad.mit.edu	37	5	15928506	15928506	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:15928506C>A	ENST00000504595.1	+	3	1116	c.635C>A	c.(634-636)cCc>cAc	p.P212H	FBXL7_ENST00000329673.7_Missense_Mutation_p.P200H|FBXL7_ENST00000510662.1_Missense_Mutation_p.P165H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	212					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGTGCTGCCCCGAACTGAGG	0.582000													29	55					1.77063e-15	2.95105e-15	0.005443	1	0
FRMD6	122786	broad.mit.edu	37	14	52188672	52188672	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:52188672G>A	ENST00000395718.2	+	12	1627	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	FRMD6_ENST00000553556.1_Missense_Mutation_p.E98K|FRMD6_ENST00000554167.1_Missense_Mutation_p.E379K|FRMD6_ENST00000356218.4_Missense_Mutation_p.E448K|FRMD6_ENST00000344768.5_Missense_Mutation_p.E456K	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	456						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTCAGAAATAGAGATGTTGGT	0.418000													19	43					0	0	0.008871	0	0
TLR7	51284	broad.mit.edu	37	X	12906090	12906090	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:12906090G>A	ENST00000380659.3	+	3	2602	c.2463G>A	c.(2461-2463)aaG>aaA	p.K821K		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	821					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GAGCACACAAGGGCCAAAGTG	0.488000													13	74					0	0	0.001855	0	0
LY75	4065	broad.mit.edu	37	2	160673472	160673472	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:160673472T>C	ENST00000263636.4	-	30	4252	c.4225A>G	c.(4225-4227)Att>Gtt	p.I1409V	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.I1409V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.I1409V|LY75_ENST00000553424.1_Missense_Mutation_p.I1409V|LY75_ENST00000554112.1_Missense_Mutation_p.I1409V	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTTTTTGAATAACACTGTAA	0.353000													26	26					0	0	0.003954	0	0
TRPV5	56302	broad.mit.edu	37	7	142627152	142627152	+	Splice_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:142627152C>A	ENST00000265310.1	-	3	698		c.e3+1		TRPV5_ENST00000442623.1_Splice_Site	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5						protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGCTCCTTACCTGCAAAAGC	0.537000													35	86					1.36161e-19	2.45091e-19	0.004289	1	0
LRWD1	222229	broad.mit.edu	37	7	102108574	102108574	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:102108574G>T	ENST00000292616.5	+	6	896	c.744G>T	c.(742-744)gcG>gcT	p.A248A		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	248					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCAAGCGGGCGTGTGCCTCCC	0.682000													3	18					0.004672	0.00501424	0.004672	1	0
KCNK16	83795	broad.mit.edu	37	6	39282878	39282878	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:39282878G>T	ENST00000373229.5	-	6	843	c.830C>A	c.(829-831)gCg>gAg	p.A277E	KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000373227.4_Missense_Mutation_p.A230E|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165E	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	277						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCTGGAGCCGCCTTGGCTCC	0.572000													31	127					2.47316e-13	3.94453e-13	0.003271	1	0
COL15A1	1306	broad.mit.edu	37	9	101749627	101749627	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:101749627C>A	ENST00000375001.3	+	4	1123	c.700C>A	c.(700-702)Ctg>Atg	p.L234M		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	234	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCCGAGGAGCTGTGTGACCC	0.642000													15	160					1.3612e-06	1.72547e-06	0.003163	1	0
RAD54L	8438	broad.mit.edu	37	1	46726526	46726526	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:46726526G>C	ENST00000371975.4	+	7	1279	c.605G>C	c.(604-606)cGc>cCc	p.R202P	RAD54L_ENST00000442598.1_Missense_Mutation_p.R202P	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	202	Helicase ATP-binding.		R -> C (in dbSNP:rs28363218).		meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACACTTTTACGCCAGAGTCCA	0.547000								Direct reversal of damage;Homologous recombination					9	37					0	0	0.004482	0	0
CACNG2	10369	broad.mit.edu	37	22	37098411	37098411	+	Splice_Site	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr22:37098411C>T	ENST00000300105.6	-	1	1192	c.211_splice	c.e1+1	p.G71_splice		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	71					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTCAAGTACCTTCTAGGCAG	0.527000													18	55					0	0	0.006122	0	0
SI	6476	broad.mit.edu	37	3	164735453	164735453	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:164735453G>T	ENST00000264382.3	-	31	3704	c.3642C>A	c.(3640-3642)ggC>ggA	p.G1214G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1214	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGACTGGATGGCCAATTACCT	0.318000										HNSCC(35;0.089)			5	12					0.00198382	0.00215484	0.001984	1	0
RAB6C	84084	broad.mit.edu	37	2	130738066	130738066	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:130738066T>C	ENST00000410061.2	+	1	832	c.378T>C	c.(376-378)aaT>aaC	p.N126N		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	126					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TAGTAGGAAATAGAACAGATC	0.413000													73	168					0	0	0.003610	0	0
CD97	976	broad.mit.edu	37	19	14515282	14515282	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:14515282T>C	ENST00000242786.5	+	13	1617	c.1537T>C	c.(1537-1539)Tgc>Cgc	p.C513R	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.C420R|CD97_ENST00000357355.3_Missense_Mutation_p.C464R	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	513	GPS.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACCGAGGGCTGCCAGGTGCT	0.617000													37	54					0	0	0.003271	0	0
PARK2	5071	broad.mit.edu	37	6	162683678	162683678	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:162683678C>A	ENST00000366898.1	-	3	393	c.291G>T	c.(289-291)cgG>cgT	p.R97R	PARK2_ENST00000366892.1_Silent_p.R97R|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.R97R	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	97					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCTGGGGCTCCCGCTCACAGC	0.582000													22	56					3.5997e-14	5.82985e-14	0.002299	1	0
AUTS2	26053	broad.mit.edu	37	7	70255379	70255379	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:70255379G>T	ENST00000342771.4	+	19	3498	c.3177G>T	c.(3175-3177)gaG>gaT	p.E1059D	AUTS2_ENST00000406775.2_Missense_Mutation_p.E1035D	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1059										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGGGCGGAGAGCGCTTCCCGT	0.632000													7	27					5.18039e-06	6.36188e-06	0.003080	1	0
PCDH10	57575	broad.mit.edu	37	4	134071464	134071464	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:134071464C>A	ENST00000264360.4	+	1	995	c.169C>A	c.(169-171)Ccc>Acc	p.P57T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	57	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCAGACGGTGCCCAACTCAAG	0.527000													34	90					4.34311e-12	6.62508e-12	0.003271	1	0
COL5A1	1289	broad.mit.edu	37	9	137630345	137630345	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:137630345G>T	ENST00000371817.3	+	10	1829	c.1415G>T	c.(1414-1416)gGc>gTc	p.G472V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	472	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCCCGCCTGGCCCAGAAGGC	0.642000													7	76					1.58986e-06	1.99525e-06	0.008291	1	0
BEND6	221336	broad.mit.edu	37	6	56880084	56880084	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:56880084C>T	ENST00000370746.3	+	4	721	c.452C>T	c.(451-453)tCt>tTt	p.S151F	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.S53F	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	151										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TGCAGTAATTCTAATTCTAAC	0.458000													20	23					0	0	0.008871	0	0
UBA6	55236	broad.mit.edu	37	4	68490785	68490785	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:68490785C>A	ENST00000322244.4	-	29	2698	c.2639G>T	c.(2638-2640)cGt>cTt	p.R880L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	880					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGTTTTGAAACGGTCAGCTGG	0.363000													12	33					1.08611e-07	1.43448e-07	0.010729	1	0
PRDM14	63978	broad.mit.edu	37	8	70981566	70981566	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:70981566T>A	ENST00000276594.2	-	2	731	c.530A>T	c.(529-531)cAg>cTg	p.Q177L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATCCTCTGACTGCTTGCTGGG	0.567000													17	42					0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26915805	26915805	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:26915805G>C	ENST00000231021.4	-	3	628	c.456C>G	c.(454-456)atC>atG	p.I152M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	152	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I152I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTGTCATTGATATCATGTA	0.373000													49	56					0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31040290	31040290	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:31040290C>A	ENST00000355537.3	+	4	3911	c.3764C>A	c.(3763-3765)cCc>cAc	p.P1255H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGCGGGGGCCCCAGAGCCTG	0.597000													14	32					3.27435e-08	4.40778e-08	0.002450	1	0
PEAR1	375033	broad.mit.edu	37	1	156876502	156876502	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:156876502C>A	ENST00000338302.3	+	7	699	c.474C>A	c.(472-474)ccC>ccA	p.P158P	PEAR1_ENST00000292357.7_Silent_p.P158P			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	158						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGTGTGATCCCAAGAGTGGGG	0.627000													68	69					2.92363e-43	5.70244e-43	0.003610	1	0
RPAP1	26015	broad.mit.edu	37	15	41820194	41820194	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41820194G>C	ENST00000304330.4	-	11	1408	c.1292C>G	c.(1291-1293)gCa>gGa	p.A431G	RPAP1_ENST00000561603.1_Missense_Mutation_p.A431G|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	431						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACACTGCCTGCTAGCCGGTC	0.542000													3	16					0	0	0.009096	0	0
LILRA1	11024	broad.mit.edu	37	19	55106637	55106637	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:55106637A>G	ENST00000453777.1	+	5	601	c.431A>G	c.(430-432)cAt>cGt	p.H144R	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.H144R|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	144	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTGACCCTCCATTGTGTCTCA	0.542000													21	136					0	0	0.002299	0	0
MUC17	140453	broad.mit.edu	37	7	100696348	100696348	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:100696348G>A	ENST00000306151.4	+	10	13249	c.13185G>A	c.(13183-13185)gtG>gtA	p.V4395V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4395						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)					ACGGCCTCGTGGGGGCAGGGG	0.597000													13	64					0	0	0.001368	0	0
SP100	6672	broad.mit.edu	37	2	231308915	231308915	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:231308915A>T	ENST00000264052.5	+	4	648	c.293A>T	c.(292-294)aAc>aTc	p.N98I	SP100_ENST00000409341.1_Missense_Mutation_p.N98I|SP100_ENST00000341950.4_Missense_Mutation_p.N98I|SP100_ENST00000340126.4_Missense_Mutation_p.N98I|SP100_ENST00000409112.1_Missense_Mutation_p.N98I|SP100_ENST00000409824.1_Missense_Mutation_p.N73I|SP100_ENST00000427101.2_Missense_Mutation_p.N73I|SP100_ENST00000409897.1_Missense_Mutation_p.N63I	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	98	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTTGTAGAAACCTGGTCCCT	0.383000													11	60					0	0	0.010729	0	0
CHRM4	1132	broad.mit.edu	37	11	46406886	46406886	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:46406886C>A	ENST00000433765.2	-	1	1221	c.1222G>T	c.(1222-1224)Gcc>Tcc	p.A408S		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	408					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGGATGAAGGCTAGCAGAATG	0.597000													17	29					3.45872e-05	4.08816e-05	0.004007	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047279	46047279	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:46047279C>T	ENST00000397911.3	+	1	240	c.191C>T	c.(190-192)cCc>cTc	p.P64L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	64	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						ACCTGTGAGCCCAGCCCCTGC	0.697000													23	142					0	0	0.002780	0	0
USP34	9736	broad.mit.edu	37	2	61575333	61575333	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:61575333T>C	ENST00000398571.2	-	15	2033	c.1957A>G	c.(1957-1959)Att>Gtt	p.I653V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	653					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCAGGCAAATGCCTGCTTGA	0.458000													6	41					0	0	0.001168	0	0
KCNH8	131096	broad.mit.edu	37	3	19575056	19575056	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:19575056C>A	ENST00000328405.2	+	16	3055	c.2789C>A	c.(2788-2790)gCa>gAa	p.A930E		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	930						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGCTGGAGTGCACACCAGCCT	0.527000													4	76					0.00909568	0.00959846	0.009096	1	0
WASF3	10810	broad.mit.edu	37	13	27259977	27259977	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr13:27259977G>A	ENST00000361042.4	+	10	1720	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	WASF3_ENST00000335327.5_Missense_Mutation_p.D502N			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	502					actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.D502N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGACTGGTCCGACTGAGCAAA	0.572000													6	32					0	0	0.004482	0	0
RNF216	54476	broad.mit.edu	37	7	5760761	5760761	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:5760761T>A	ENST00000425013.2	-	9	1600	c.1376A>T	c.(1375-1377)aAg>aTg	p.K459M	RNF216_ENST00000389902.3_Missense_Mutation_p.K516M	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	459					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATGTCGTCGCTTATTTTCAAG	0.428000													29	62					0	0	0.005443	0	0
TLR4	7099	broad.mit.edu	37	9	120476646	120476646	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:120476646G>T	ENST00000355622.6	+	3	2341	c.2240G>T	c.(2239-2241)tGt>tTt	p.C747F	TLR4_ENST00000394487.4_Missense_Mutation_p.C707F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	747	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGCCGCTGGTGTATCTTTGAA	0.507000													4	68					0.00024832	0.000280361	0.009096	1	0
CDH17	1015	broad.mit.edu	37	8	95189922	95189922	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:95189922A>C	ENST00000027335.3	-	4	302	c.178T>G	c.(178-180)Ttt>Gtt	p.F60V	CDH17_ENST00000441892.2_Missense_Mutation_p.F60V|CDH17_ENST00000450165.2_Missense_Mutation_p.F60V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	60	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTTAGTTCAAAAGTCACAGCA	0.403000													22	43					0	0	0.010504	0	0
UNC79	57578	broad.mit.edu	37	14	94063707	94063707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:94063707G>T	ENST00000553484.1	+	24	3347	c.3193G>T	c.(3193-3195)Gaa>Taa	p.E1065*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.E1065*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E1065*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E888*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1065						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATTGCAGTGGAAAAAGTTGC	0.423000													11	43					1.58986e-06	1.99525e-06	0.008291	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128873207	128873207	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:128873207G>T	ENST00000371106.3	+	1	210	c.18G>T	c.(16-18)tgG>tgT	p.W6C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.W6C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	6					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGGCTCACTGGGGCTGCTGCC	0.637000													8	251					2.17888e-05	2.58025e-05	0.006214	1	0
GRM1	2911	broad.mit.edu	37	6	146351126	146351126	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:146351126G>A	ENST00000392299.2	+	2	943	c.473G>A	c.(472-474)gGa>gAa	p.G158E	GRM1_ENST00000355289.4_Missense_Mutation_p.G158E|GRM1_ENST00000282753.1_Missense_Mutation_p.G158E|GRM1_ENST00000492807.2_Missense_Mutation_p.G158E|GRM1_ENST00000507907.1_Missense_Mutation_p.G158E|GRM1_ENST00000361719.2_Missense_Mutation_p.G158E			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	158					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCATTGCGGGAGTGATCGGT	0.572000													4	81					0	0	0.009096	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653751	30653751	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:30653751G>T	ENST00000274853.3	-	1	1921	c.45C>A	c.(43-45)cgC>cgA	p.R15R	PPP1R18_ENST00000399199.3_Silent_p.R15R|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	15						cytoplasm|cytoskeleton	actin binding										CCTCCTGCCGGCGCCGGGCTA	0.662000													45	186					2.0833e-19	3.72863e-19	0.003610	1	0
KLHL36	79786	broad.mit.edu	37	16	84691417	84691417	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:84691417G>T	ENST00000564996.1	+	3	1145	c.1004G>T	c.(1003-1005)cGg>cTg	p.R335L	KLHL36_ENST00000258157.5_Missense_Mutation_p.R335L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	335										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCCGCCCGGCGGAGCCACCAC	0.652000													5	12					3.59834e-05	4.22151e-05	0.001168	1	0
POSTN	10631	broad.mit.edu	37	13	38166303	38166303	+	Splice_Site	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr13:38166303T>A	ENST00000379747.4	-	3	336		c.e3-2		POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AACACAGTCCTGTACATAGGA	0.289000													7	18					0	0	0.001984	0	0
PCF11	51585	broad.mit.edu	37	11	82868580	82868580	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:82868580C>A	ENST00000298281.4	+	1	551	c.99C>A	c.(97-99)agC>agA	p.S33R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	33	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCTTCAATAGCAAGCCGCACA	0.587000													11	96					4.68919e-08	6.28551e-08	0.008291	1	0
FBXO15	201456	broad.mit.edu	37	18	71796748	71796748	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:71796748A>G	ENST00000269500.5	-	5	784	c.449T>C	c.(448-450)gTt>gCt	p.V150A	FBXO15_ENST00000419743.2_Missense_Mutation_p.V226A	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	150										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATACCATATAACAGTAACTGA	0.368000													7	35					0	0	0.003080	0	0
FAR2	55711	broad.mit.edu	37	12	29464033	29464033	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:29464033G>C	ENST00000182377.4	+	7	1109	c.841G>C	c.(841-843)Gtc>Ctc	p.V281L	FAR2_ENST00000547116.1_Missense_Mutation_p.V184L|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.V281L	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	281					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						AGTTGATACAGTCGTCAATCT	0.438000													33	133					0	0	0.003271	0	0
ADCY1	107	broad.mit.edu	37	7	45650033	45650033	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:45650033A>G	ENST00000297323.7	+	3	867	c.845A>G	c.(844-846)gAc>gGc	p.D282G	ADCY1_ENST00000432715.1_Missense_Mutation_p.D57G	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	282					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATGAAGGAGGACTTCCTGAAG	0.612000													43	117					0	0	0.003610	0	0
OR51A4	401666	broad.mit.edu	37	11	4967809	4967809	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:4967809G>T	ENST00000380373.2	-	1	547	c.522C>A	c.(520-522)aaC>aaA	p.N174K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		GGGATAATTGGTTTTTCTTGC	0.418000													42	249					6.45866e-13	1.01218e-12	0.008740	1	0
PMFBP1	83449	broad.mit.edu	37	16	72153719	72153719	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:72153719C>A	ENST00000537465.1	-	20	3211	c.3053G>T	c.(3052-3054)tGt>tTt	p.C1018F	PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000355636.6_Intron|PMFBP1_ENST00000537792.1_Intron			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	1018										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AAAAAAATCACACTTATTTTT	0.433000													3	37					0.004672	0.00501424	0.004672	1	0
NLRP12	91662	broad.mit.edu	37	19	54308698	54308698	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:54308698C>A	ENST00000324134.6	-	5	2418	c.2250G>T	c.(2248-2250)aaG>aaT	p.K750N	NLRP12_ENST00000391773.1_Missense_Mutation_p.K751N|NLRP12_ENST00000351894.4_Missense_Mutation_p.K750N|NLRP12_ENST00000354278.3_Missense_Mutation_p.K750N|NLRP12_ENST00000391772.1_Missense_Mutation_p.K751N|NLRP12_ENST00000535162.1_Missense_Mutation_p.K750N|NLRP12_ENST00000391775.3_Missense_Mutation_p.K750N|NLRP12_ENST00000345770.5_Missense_Mutation_p.K751N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	750					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCGGCACCTCTTCAGCCTGG	0.463000													15	75					4.93089e-13	7.78562e-13	0.002450	1	0
LRRC7	57554	broad.mit.edu	37	1	70504765	70504765	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:70504765A>G	ENST00000310961.5	+	22	3577	c.3159A>G	c.(3157-3159)atA>atG	p.I1053M	LRRC7_ENST00000415775.2_Missense_Mutation_p.I332M|LRRC7_ENST00000035383.5_Missense_Mutation_p.I1048M			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1048						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAAGAGGATACCACCCCCTT	0.448000													8	31					0	0	0.008291	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569280	173569280	+	Silent	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:173569280T>A	ENST00000367714.3	-	3	626	c.204A>T	c.(202-204)ggA>ggT	p.G68G	SLC9C2_ENST00000536496.1_Intron|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	68					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGGCCATGTGTCCTATCACGA	0.343000													30	30					0	0	0.004289	0	0
MROH2B	133558	broad.mit.edu	37	5	41008745	41008745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:41008745G>A	ENST00000399564.4	-	33	4021	c.3571C>T	c.(3571-3573)Cag>Tag	p.Q1191*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q746*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTCCCTGCTGCATCACATGC	0.562000													44	61					0	0	0.003610	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337276	13337276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:13337276C>A	ENST00000380622.2	-	1	1242	c.778G>T	c.(778-780)Gga>Tga	p.G260*	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	260					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GATGTGTTTCCGGAACTACCT	0.428000													10	330					1.58986e-06	1.99525e-06	0.008291	1	0
RPTOR	57521	broad.mit.edu	37	17	78931471	78931471	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:78931471A>T	ENST00000306801.3	+	29	3780	c.3418A>T	c.(3418-3420)Agc>Tgc	p.S1140C	RPTOR_ENST00000544334.2_Missense_Mutation_p.S982C|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1140					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTCCTCATGAGCTCAGGAGA	0.632000													23	125					0	0	0.002780	0	0
FGF12	2257	broad.mit.edu	37	3	191888365	191888365	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:191888365G>A	ENST00000454309.2	-	4	1320	c.495C>T	c.(493-495)cgC>cgT	p.R165R	FGF12_ENST00000450716.1_Silent_p.R103R|FGF12_ENST00000264730.3_Silent_p.R103R|FGF12_ENST00000445105.1_Silent_p.R103R|FGF12_ENST00000430714.1_Silent_p.R66R	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	165					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ATTCTTGCTGGCGGTACAGTG	0.393000													41	144					0	0	0.006230	0	0
SLC34A1	6569	broad.mit.edu	37	5	176823992	176823992	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:176823992C>A	ENST00000324417.5	+	12	1424	c.1333C>A	c.(1333-1335)Ctg>Atg	p.L445M	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	445					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCCGCTCACACTGGGTTCCAA	0.647000													30	27					1.68575e-08	2.29876e-08	0.007291	1	0
TMEM206	55248	broad.mit.edu	37	1	212553283	212553283	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:212553283C>T	ENST00000261455.4	-	5	729	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	TMEM206_ENST00000535273.1_Missense_Mutation_p.A259T	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	198						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TAATCAATGGCGCTGAAGTCC	0.502000													9	96					0	0	0.006214	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218253	130218253	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:130218253A>T	ENST00000276211.5	+	5	965	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.Q71L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.Q195L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	207					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAGACCCTGCAGCTTTCAAAA	0.478000													54	35					0	0	0.003610	0	0
JAK3	3718	broad.mit.edu	37	19	17955088	17955088	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:17955088C>A	ENST00000458235.1	-	2	238	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	JAK3_ENST00000527670.1_Missense_Mutation_p.D47Y|JAK3_ENST00000534444.1_Missense_Mutation_p.D47Y|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	47	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCCAAGTGGTCCCCAAAGGAG	0.677000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								8	10					0.00448238	0.00484374	0.004482	1	0
RNF113A	7737	broad.mit.edu	37	X	119005497	119005497	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:119005497G>T	ENST00000371442.2	-	1	294	c.80C>A	c.(79-81)gCt>gAt	p.A27D	NDUFA1_ENST00000371437.4_5'UTR	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	27							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GCGTCCAGCAGCCCCTTTCCG	0.597000													28	130					4.59853e-10	6.62946e-10	0.005443	1	0
DSCAM	1826	broad.mit.edu	37	21	41459132	41459132	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:41459132C>A	ENST00000400454.1	-	22	4410	c.3933G>T	c.(3931-3933)ggG>ggT	p.G1311G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1311	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGAAGGGTCCCCAACAGCCT	0.468000													8	95					1.12685e-05	1.36522e-05	0.004482	1	0
HDAC9	9734	broad.mit.edu	37	7	18688117	18688117	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:18688117C>T	ENST00000406451.3	+	11	1419	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	HDAC9_ENST00000401921.1_Silent_p.P382P|HDAC9_ENST00000524023.1_Silent_p.P346P|HDAC9_ENST00000417496.2_Silent_p.P421P|HDAC9_ENST00000441542.2_Silent_p.P426P|HDAC9_ENST00000428307.2_Silent_p.P379P|HDAC9_ENST00000406072.1_Silent_p.P410P|HDAC9_ENST00000405010.3_Silent_p.P423P|HDAC9_ENST00000432645.2_Silent_p.P423P|HDAC9_ENST00000456174.2_Silent_p.P395P	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	423					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCAGTCTCCCTTGGCAACAA	0.453000													18	98					0	0	0.008871	0	0
ANK2	287	broad.mit.edu	37	4	114278492	114278492	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:114278492G>T	ENST00000357077.4	+	38	8771	c.8718G>T	c.(8716-8718)atG>atT	p.M2906I	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.M2873I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2873					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATTTTCCATGGATGTTCCCG	0.398000													34	106					2.20474e-14	3.5891e-14	0.003755	1	0
CARD11	84433	broad.mit.edu	37	7	2976714	2976714	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:2976714C>G	ENST00000396946.4	-	9	1701	c.1298G>C	c.(1297-1299)aGc>aCc	p.S433T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	433					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGCAGCTTGCTCTCCAGGTT	0.642000			Mis		DLBCL								21	47					0	0	0.002299	0	0
STARD8	9754	broad.mit.edu	37	X	67940175	67940175	+	Silent	SNP	A	A	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:67940175A>C	ENST00000252336.6	+	7	2091	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	STARD8_ENST00000374599.3_Silent_p.P653P|STARD8_ENST00000374597.3_Silent_p.P573P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	573	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.P573P(4)|p.P653P(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGGGGTGCCACCCCTCATCC	0.577000													4	16					0	0	0.001168	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261111	30261111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:30261111G>T	ENST00000378982.2	+	1	1055	c.859G>T	c.(859-861)Gag>Tag	p.E287*		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	287	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GAAAGTCCTGGAGTTTTTGGC	0.512000													26	59					6.32553e-13	9.93787e-13	0.004656	1	0
CTR9	9646	broad.mit.edu	37	11	10791812	10791812	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:10791812A>G	ENST00000361367.2	+	17	2591	c.2165A>G	c.(2164-2166)tAt>tGt	p.Y722C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	722					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTGTACTCTATTTGGCCCGG	0.378000													11	59					0	0	0.010729	0	0
ERN2	10595	broad.mit.edu	37	16	23703537	23703537	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:23703537G>T	ENST00000256797.4	-	18	2528	c.2360C>A	c.(2359-2361)cCc>cAc	p.P787H	ERN2_ENST00000457008.2_Missense_Mutation_p.P687H	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	739	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCCAGACAGGGAGCCCCTGT	0.602000													58	66					3.40343e-31	6.5172e-31	0.003610	1	0
OR14J1	442191	broad.mit.edu	37	6	29274893	29274893	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:29274893G>T	ENST00000377160.2	+	1	491	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TAGGCATGCAGTGATAGCTGT	0.488000													101	105					1.7666e-45	3.45639e-45	0.003610	1	0
DSC2	1824	broad.mit.edu	37	18	28648987	28648987	+	Missense_Mutation	SNP	G	G	A	rs1617629		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:28648987G>A	ENST00000280904.6	-	15	2824	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	DSC2_ENST00000251081.6_Missense_Mutation_p.S794L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	794					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCAGGATTCCGAGGTCTGGTG	0.592000													11	62					0	0	0.008291	0	0
PRSS22	64063	broad.mit.edu	37	16	2903323	2903323	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:2903323G>A	ENST00000161006.3	-	6	790	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PRSS22_ENST00000571228.1_Missense_Mutation_p.S132F	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	242	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GGGGCCCCCGGAGTCGCCCTG	0.711000													9	21					0	0	0.006214	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091866	143091866	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:143091866C>T	ENST00000367603.2	-	5	4752	c.4010G>A	c.(4009-4011)cGg>cAg	p.R1337Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1337Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1337Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1337Q(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGTCTGGATCCGAACAGGAAC	0.488000													15	66					0	0	0.002450	0	0
VANGL1	81839	broad.mit.edu	37	1	116206606	116206606	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:116206606G>C	ENST00000355485.2	+	4	800	c.529G>C	c.(529-531)Gct>Cct	p.A177P	VANGL1_ENST00000310260.3_Missense_Mutation_p.A177P|VANGL1_ENST00000369510.3_Missense_Mutation_p.A175P|VANGL1_ENST00000369509.1_Missense_Mutation_p.A177P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	177					multicellular organismal development	integral to membrane	protein binding	p.F171fs*93(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAAGCGGAGAGCTGACATGCC	0.488000													22	129					0	0	0.002780	0	0
RYR1	6261	broad.mit.edu	37	19	39038899	39038899	+	Missense_Mutation	SNP	C	C	T	rs144685735		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:39038899C>T	ENST00000355481.4	+	88	12237	c.12106C>T	c.(12106-12108)Cgg>Tgg	p.R4036W	RYR1_ENST00000359596.3_Missense_Mutation_p.R4041W|RYR1_ENST00000360985.3_Missense_Mutation_p.R4036W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4041					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)	CATGATCGCCCGGCAGATGGT	0.572000													11	76					0	0	0.001368	0	0
NID1	4811	broad.mit.edu	37	1	236175324	236175324	+	Silent	SNP	T	T	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:236175324T>G	ENST00000264187.6	-	12	2506	c.2424A>C	c.(2422-2424)ccA>ccC	p.P808P	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	808	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GACATCGGCTTGGCTGGCATT	0.507000													4	66					0	0	0.001168	0	0
WDR63	126820	broad.mit.edu	37	1	85547055	85547055	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:85547055G>T	ENST00000294664.6	+	4	422	c.242G>T	c.(241-243)aGa>aTa	p.R81I	WDR63_ENST00000326813.8_Missense_Mutation_p.R81I|WDR63_ENST00000370596.1_Missense_Mutation_p.R81I	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	81										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CTGCGCAACAGAGCTGCAGTA	0.378000													9	36					1.12685e-05	1.36522e-05	0.004482	1	0
PROS1	5627	broad.mit.edu	37	3	93619740	93619740	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:93619740C>A	ENST00000394236.3	-	7	951	c.635G>T	c.(634-636)tGt>tTt	p.C212F	PROS1_ENST00000407433.1_Missense_Mutation_p.C81F	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	212	EGF-like 3; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AGCTGTGCCACAAATGCTTGG	0.388000													6	35					8.12818e-05	9.34445e-05	0.001984	1	0
KRT16P3	644945	broad.mit.edu	37	17	20407395	20407395	+	RNA	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:20407395C>A	ENST00000580113.1	-	0	252																											TCACTGCCCACCAGAAGCCCA	0.632000													41	46					2.41709e-19	4.31379e-19	0.003610	1	0
LPIN1	23175	broad.mit.edu	37	2	11943039	11943039	+	Missense_Mutation	SNP	G	G	T	rs145608684	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:11943039G>T	ENST00000256720.2	+	14	1878	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	LPIN1_ENST00000425416.2_Missense_Mutation_p.K601N|LPIN1_ENST00000396097.1_Missense_Mutation_p.K325N|LPIN1_ENST00000396099.1_Missense_Mutation_p.K637N|LPIN1_ENST00000449576.2_Missense_Mutation_p.K680N|LPIN1_ENST00000404113.2_Missense_Mutation_p.K96N	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	595					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCAGGGTAAAGCATGAATCAT	0.468000													7	252					1.26484e-09	1.80692e-09	0.003080	1	0
FAM212A	389119	broad.mit.edu	37	3	49841780	49841780	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:49841780T>A	ENST00000333323.4	+	2	357	c.224T>A	c.(223-225)gTg>gAg	p.V75E		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	73																	gaggaAGCAGTGGTGACAGAA	0.627000													16	46					0	0	0.003163	0	0
MTOR	2475	broad.mit.edu	37	1	11182094	11182094	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:11182094C>T	ENST00000361445.4	-	48	6828	c.6752G>A	c.(6751-6753)cGg>cAg	p.R2251Q	MTOR_ENST00000376838.1_Missense_Mutation_p.R456Q	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2251	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCTGTAGTCCCGGATGAGGGC	0.577000													14	79					0	0	0.003163	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159074	18159074	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:18159074G>T	ENST00000396275.2	+	3	686	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	109						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTACTTTATAGGCCTAAGCAT	0.547000													35	160					3.38236e-24	6.2858e-24	0.006999	1	0
SYNPO2	171024	broad.mit.edu	37	4	119978927	119978927	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:119978927C>A	ENST00000307142.4	+	5	3820	c.3624C>A	c.(3622-3624)tcC>tcA	p.S1208S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATAATATGTCCACCACCTCCC	0.413000													17	52					1.15088e-07	1.51685e-07	0.004007	1	0
UGT1A9	54600	broad.mit.edu	37	2	234580712	234580712	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:234580712G>T	ENST00000354728.4	+	1	214	c.132G>T	c.(130-132)gtG>gtT	p.V44V	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TGAGGTCGGTGGTGGAGAAAC	0.532000													14	67					7.93312e-07	1.00967e-06	0.002450	1	0
HOXA5	3202	broad.mit.edu	37	7	27182927	27182927	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:27182927C>A	ENST00000222726.3	-	1	360	c.300G>T	c.(298-300)ccG>ccT	p.P100P	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	100					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						AGCAGGGCAGCGGATCGGGCT	0.751000													10	21					7.48243e-07	9.56172e-07	0.006214	1	0
TRPM7	54822	broad.mit.edu	37	15	50899520	50899520	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:50899520T>C	ENST00000313478.7	-	20	2867	c.2586A>G	c.(2584-2586)gcA>gcG	p.A862A	TRPM7_ENST00000560955.1_Silent_p.A862A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	862					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATCCTAAATATGCCAACTAAT	0.264000													14	32					0	0	0.001855	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982211	89982211	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:89982211G>T	ENST00000222511.6	+	2	181	c.115G>T	c.(115-117)Ggt>Tgt	p.G39C	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G39C	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	39					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGTGGAGAAGGTGGAAAAGG	0.433000													16	28					6.94344e-10	9.98714e-10	0.006122	1	0
PTPRT	11122	broad.mit.edu	37	20	40980762	40980762	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:40980762C>A	ENST00000373198.3	-	10	1959	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V	PTPRT_ENST00000373201.1_Missense_Mutation_p.G575V|PTPRT_ENST00000373184.1_Missense_Mutation_p.G575V|PTPRT_ENST00000373190.1_Missense_Mutation_p.G575V|PTPRT_ENST00000373193.3_Missense_Mutation_p.G575V|PTPRT_ENST00000373187.1_Missense_Mutation_p.G575V|PTPRT_ENST00000356100.2_Missense_Mutation_p.G575V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	575	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACAGGGGGCCCAAAGCCCTT	0.502000													19	66					7.21436e-19	1.2767e-18	0.008871	1	0
KRT36	8689	broad.mit.edu	37	17	39645847	39645847	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:39645847G>T	ENST00000393986.2	-	2	332	c.120C>A	c.(118-120)aaC>aaA	p.N40K	KRT36_ENST00000328119.6_Missense_Mutation_p.N90K			O76013	KRT36_HUMAN	keratin 36	90	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCTCGCTGCCGTTGAAGGAGC	0.632000													28	113					2.08457e-15	3.46511e-15	0.010818	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291176	141291176	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:141291176C>A	ENST00000247452.3	-	3	945	c.598G>T	c.(598-600)Gtg>Ttg	p.V200L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	200	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGCCCACTTCTATCAGG	0.478000										HNSCC(46;0.14)			184	121					3.73429e-81	7.46859e-81	0.003610	1	0
BRSK2	9024	broad.mit.edu	37	11	1466580	1466580	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:1466580G>A	ENST00000308219.9	+	10	1255	c.869G>A	c.(868-870)cGc>cAc	p.R290H	BRSK2_ENST00000531197.1_Missense_Mutation_p.R290H|BRSK2_ENST00000308230.5_Missense_Mutation_p.R290H|BRSK2_ENST00000382179.1_Missense_Mutation_p.R336H|BRSK2_ENST00000526678.1_Missense_Mutation_p.R290H|BRSK2_ENST00000528710.1_Missense_Mutation_p.R230H|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528841.1_Missense_Mutation_p.R290H	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	290					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GTGCAGATCCGCTCGCTGCCC	0.657000													6	48					0	0	0.001984	0	0
HPSE2	60495	broad.mit.edu	37	10	100481549	100481549	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:100481549A>G	ENST00000370552.3	-	5	880	c.821T>C	c.(820-822)gTa>gCa	p.V274A	HPSE2_ENST00000370549.1_Missense_Mutation_p.V216A|HPSE2_ENST00000370546.1_Missense_Mutation_p.V274A|HPSE2_ENST00000404542.1_Missense_Mutation_p.V162A	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	274					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCTGCCATTTACTGCCCGGCC	0.468000													11	42					0	0	0.001368	0	0
MASP1	5648	broad.mit.edu	37	3	186943230	186943230	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:186943230G>T	ENST00000337774.5	-	13	2012	c.1623C>A	c.(1621-1623)caC>caA	p.H541Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	541	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATACTGGGGGTGGAGAGTGG	0.547000													20	105					1.96292e-10	2.88935e-10	0.010504	1	0
OR6C3	254786	broad.mit.edu	37	12	55725826	55725826	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:55725826C>A	ENST00000379667.1	+	1	342	c.342C>A	c.(340-342)gcC>gcA	p.A114A		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTTTAACTGCCATGTCCTATG	0.423000													20	105					1.33834e-09	1.90328e-09	0.007413	1	0
PTPN7	5778	broad.mit.edu	37	1	202128594	202128594	+	Silent	SNP	G	G	T	rs150883460		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:202128594G>T	ENST00000367279.4	-	1	525	c.54C>A	c.(52-54)gcC>gcA	p.A18A	PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000543735.1_Intron	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	0						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TGAAAGACAGGGCCCTCCGCT	0.637000													32	35					1.74807e-11	2.63465e-11	0.010818	1	0
NRG3	10718	broad.mit.edu	37	10	84733574	84733574	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:84733574G>C	ENST00000372142.2	+	8	926	c.652G>C	c.(652-654)Gca>Cca	p.A218P	NRG3_ENST00000556918.1_Missense_Mutation_p.A269P|NRG3_ENST00000545131.1_Missense_Mutation_p.A89P|NRG3_ENST00000372141.2_Missense_Mutation_p.A439P|NRG3_ENST00000404547.1_Missense_Mutation_p.A439P|NRG3_ENST00000404576.2_Missense_Mutation_p.A243P|NRG3_ENST00000537893.1_Missense_Mutation_p.A89P	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	439	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCTGTGACTGCATTGGAGAA	0.483000													24	51					0	0	0.003954	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	68					0	0	0.000602	0	0
RIMS1	22999	broad.mit.edu	37	6	73102455	73102455	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:73102455G>T	ENST00000264839.7	+	27	4108	c.4108G>T	c.(4108-4110)Gat>Tat	p.D1370Y	RIMS1_ENST00000520567.1_Missense_Mutation_p.D1171Y|RIMS1_ENST00000521978.1_Missense_Mutation_p.D1521Y|RIMS1_ENST00000517827.1_Missense_Mutation_p.D655Y|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1200Y|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1304Y|RIMS1_ENST00000414192.2_Missense_Mutation_p.D48Y|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1344Y|RIMS1_ENST00000425662.2_Missense_Mutation_p.D589Y|RIMS1_ENST00000401910.3_Missense_Mutation_p.D841Y|RIMS1_ENST00000538414.1_Missense_Mutation_p.D327Y|RIMS1_ENST00000523963.1_Missense_Mutation_p.D646Y|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1304Y|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1120Y			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1521	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGATTTTCTTGATGGATTGGG	0.408000													19	43					2.89027e-11	4.30465e-11	0.002299	1	0
PPP6R1	22870	broad.mit.edu	37	19	55751251	55751251	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:55751251C>A	ENST00000412770.2	-	13	2072	c.1506G>T	c.(1504-1506)tgG>tgT	p.W502C	PPP6R1_ENST00000587283.1_Missense_Mutation_p.W502C	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	502					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CGAAGGCTTCCCACTGCTCCT	0.632000													11	30					1.5842e-08	2.17439e-08	0.001855	1	0
MTMR11	10903	broad.mit.edu	37	1	149907245	149907245	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:149907245G>C	ENST00000439741.2	-	4	522	c.272C>G	c.(271-273)cCc>cGc	p.P91R	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.P91R|MTMR11_ENST00000406732.3_Missense_Mutation_p.P63R|MTMR11_ENST00000369140.3_Missense_Mutation_p.P19R	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	91							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACTGTTCAAGGGAGTGTCCTA	0.532000													26	28					0	0	0.006320	0	0
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:7577536T>A	ENST00000420246.2	-	7	877	c.745A>T	c.(745-747)Agg>Tgg	p.R249W	TP53_ENST00000359597.4_Missense_Mutation_p.R249W|TP53_ENST00000413465.2_Missense_Mutation_p.R249W|TP53_ENST00000269305.4_Missense_Mutation_p.R249W|TP53_ENST00000445888.2_Missense_Mutation_p.R249W|TP53_ENST00000455263.2_Missense_Mutation_p.R249W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGATGGGCCTCCGGTTCATG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	24					0	0	0.002780	0	0
VSX1	30813	broad.mit.edu	37	20	25056973	25056973	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:25056973G>T	ENST00000376709.4	-	5	1285	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	341					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ACCAGCCCCAGGGTGCACTTT	0.597000													12	58					5.16669e-11	7.67692e-11	0.010729	1	0
SLC16A7	9194	broad.mit.edu	37	12	60168655	60168655	+	Silent	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:60168655C>G	ENST00000261187.4	+	4	743	c.579C>G	c.(577-579)tcC>tcG	p.S193S	SLC16A7_ENST00000547379.1_Silent_p.S193S|SLC16A7_ENST00000552024.1_Silent_p.S193S|SLC16A7_ENST00000543448.1_Silent_p.S94S|SLC16A7_ENST00000552432.1_Silent_p.S193S	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	193						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TGGCTGGTTCCCTCATGAGAC	0.408000													5	30					0	0	0.001168	0	0
BCL11A	53335	broad.mit.edu	37	2	60688990	60688990	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:60688990G>T	ENST00000335712.6	-	4	1284	c.1057C>A	c.(1057-1059)Ccc>Acc	p.P353T	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P353T|BCL11A_ENST00000538214.1_Missense_Mutation_p.P319T|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P319T|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	353	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCCAGGAAGGGCGGCTTGCTA	0.647000			T	IGH@	B-CLL								21	87					1.28384e-07	1.68504e-07	0.012319	1	0
DOCK2	1794	broad.mit.edu	37	5	169129338	169129338	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:169129338C>T	ENST00000256935.8	+	14	1370	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	430	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATTACTCTCTTACAAGGTG	0.493000											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	114					0	0	0.001168	0	0
GRM2	2912	broad.mit.edu	37	3	51746673	51746673	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:51746673C>A	ENST00000395052.3	+	3	869	c.635C>A	c.(634-636)tCt>tAt	p.S212Y	GRM2_ENST00000442933.2_Missense_Mutation_p.S212Y|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	212					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACTGTGGCGTCTGAGGGCGAC	0.582000													20	57					2.4624e-09	3.46274e-09	0.008871	1	0
DNAH11	8701	broad.mit.edu	37	7	21784546	21784546	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:21784546G>C	ENST00000328843.6	+	52	8427	c.8396G>C	c.(8395-8397)aGa>aCa	p.R2799T	DNAH11_ENST00000409508.3_Missense_Mutation_p.R2792T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2799					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTGATAGAGGGAAGGAC	0.443000									Kartagener syndrome				7	17					0	0	0.001984	0	0
SLC5A8	160728	broad.mit.edu	37	12	101598296	101598296	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:101598296G>A	ENST00000536262.2	-	2	957	c.399C>T	c.(397-399)gtC>gtT	p.V133V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	133					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATGAAGAGGACTGTTCCAC	0.333000													11	21					0	0	0.010729	0	0
OR51B5	282763	broad.mit.edu	37	11	5364119	5364119	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:5364119G>A	ENST00000300773.2	-	1	690	c.636C>T	c.(634-636)atC>atT	p.I212I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGATGAAGATAATCAGAT	0.468000													13	108					0	0	0.001368	0	0
TSKU	25987	broad.mit.edu	37	11	76506887	76506887	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:76506887C>T	ENST00000527881.1	+	2	1253	c.227C>T	c.(226-228)tCg>tTg	p.S76L	TSKU_ENST00000333090.4_Missense_Mutation_p.S76L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	76						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GTGAATGAGTCGGTGTTGGCG	0.637000													16	53					0	0	0.004007	0	0
ALPK2	115701	broad.mit.edu	37	18	56203989	56203989	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:56203989G>T	ENST00000361673.3	-	5	3643	c.3430C>A	c.(3430-3432)Cag>Aag	p.Q1144K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1144							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAACCCTGCTGGGACAGGCTC	0.522000													12	201					1.08611e-07	1.43448e-07	0.010729	1	0
TET3	200424	broad.mit.edu	37	2	74307667	74307667	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:74307667C>T	ENST00000409262.3	+	3	2223	c.2223C>T	c.(2221-2223)atC>atT	p.I741I		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	741							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAGGTCATCTACACGGGGA	0.557000													5	26					0	0	0.001168	0	0
IL1RAP	3556	broad.mit.edu	37	3	190362060	190362060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:190362060G>T	ENST00000412504.2	+	9	1327	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.E359*			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	359					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATACACAGTGGAACTGGCTTG	0.473000													4	16					0.00909568	0.00959846	0.009096	1	0
RELN	5649	broad.mit.edu	37	7	103205900	103205900	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:103205900A>T	ENST00000424685.2	-	34	5194	c.5035T>A	c.(5035-5037)Tcc>Acc	p.S1679T	RELN_ENST00000343529.5_Missense_Mutation_p.S1679T|RELN_ENST00000428762.1_Missense_Mutation_p.S1679T			P78509	RELN_HUMAN	reelin	1679					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)		ACACTGTGGGAGTTGCTGAAG	0.478000													7	22					0	0	0.001984	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578556	85578556	+	RNA	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:85578556C>A	ENST00000590707.1	+	0	279					NR_003719.2																						CAGTCCCTGGCTCTACCTCTT	0.463000													22	95					0.000229342	0.000260804	0.012319	1	0
GRIK1	2897	broad.mit.edu	37	21	30953768	30953768	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:30953768C>A	ENST00000399914.1	-	12	2365	c.1844G>T	c.(1843-1845)gGa>gTa	p.G615V	GRIK1_ENST00000399913.1_Missense_Mutation_p.G630V|GRIK1_ENST00000327783.4_Missense_Mutation_p.G630V|GRIK1_ENST00000389125.3_Missense_Mutation_p.G615V|GRIK1_ENST00000399909.1_Missense_Mutation_p.G615V|GRIK1_ENST00000389124.2_Missense_Mutation_p.G630V|GRIK1_ENST00000399907.1_Missense_Mutation_p.G630V|GRIK1_ENST00000309434.7_Missense_Mutation_p.G632V|GRIK1_ENST00000535441.1_Missense_Mutation_p.G632V			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	630					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGCTCCAACTCCAAACCAGAA	0.483000													43	36					1.7489e-18	3.07768e-18	0.011902	1	0
PIK3R6	146850	broad.mit.edu	37	17	8732150	8732150	+	Silent	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:8732150C>G	ENST00000311434.9	-	11	1286	c.1047G>C	c.(1045-1047)ggG>ggC	p.G349G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	349					platelet activation	cytosol											GCTCATCAGCCCCCGTGGGAA	0.662000													7	15					0	0	0.003080	0	0
TDP2	51567	broad.mit.edu	37	6	24651078	24651078	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:24651078C>A	ENST00000341060.3	-	6	1248	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	TDP2_ENST00000545995.1_Missense_Mutation_p.D373Y|TDP2_ENST00000378198.4_Missense_Mutation_p.D343Y			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	343					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTACCACAGTCCAGTTTTTCT	0.398000								Direct reversal of damage					8	52					3.09899e-07	3.98441e-07	0.004482	1	0
FBXO40	51725	broad.mit.edu	37	3	121341270	121341270	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:121341270A>G	ENST00000338040.4	+	3	1408	c.994A>G	c.(994-996)Aga>Gga	p.R332G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	332					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACCCAAGGAGAGAGACTTTGT	0.468000													12	53					0	0	0.001368	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	20					3.09899e-07	3.98441e-07	0.004482	1	0
CPSF2	53981	broad.mit.edu	37	14	92600367	92600367	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:92600367G>T	ENST00000298875.4	+	4	447	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	54					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ATGTTCACCAGATTGATGCAG	0.433000													37	112					1.52319e-26	2.85597e-26	0.008740	1	0
TEX13B	56156	broad.mit.edu	37	X	107225222	107225222	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:107225222C>A	ENST00000302917.1	-	2	228	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	46										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TTGTCTTCCACCTCCTCCCAG	0.597000													15	176					6.31663e-08	8.41327e-08	0.003163	1	0
AADAC	13	broad.mit.edu	37	3	151545806	151545806	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:151545806G>A	ENST00000232892.6	+	5	1172	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	349					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATGATGGACTCATGTAT	0.458000													11	43					0	0	0.008291	0	0
KIF4B	285643	broad.mit.edu	37	5	154394885	154394885	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:154394885A>G	ENST00000435029.4	+	1	1626	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	489					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCAGCCATTGATACTGCGGTA	0.453000													37	60					0	0	0.005524	0	0
HECW1	23072	broad.mit.edu	37	7	43484732	43484732	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:43484732C>A	ENST00000395891.1	+	11	2566	c.1961C>A	c.(1960-1962)aCc>aAc	p.T654N	HECW1_ENST00000453890.1_Missense_Mutation_p.T654N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	654					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACCCCAGCACCGGGAGCGAG	0.721000													20	30					4.96729e-08	6.64415e-08	0.008871	1	0
MAGIX	79917	broad.mit.edu	37	X	49022560	49022560	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:49022560C>A	ENST00000376338.3	+	4	729	c.650C>A	c.(649-651)gCc>gAc	p.A217D	MAGIX_ENST00000425661.2_Missense_Mutation_p.A200D|MAGIX_ENST00000376339.1_Missense_Mutation_p.A212D|MAGIX_ENST00000412696.2_Missense_Mutation_p.A276D|MAGIX_ENST00000498742.1_3'UTR			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	276																	CCAGAGGCGGCCGCCGATGGC	0.687000													7	12					0.000157383	0.000179948	0.003080	1	0
EMC1	23065	broad.mit.edu	37	1	19549300	19549300	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:19549300C>T	ENST00000477853.1	-	20	2447	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R801H|EMC1_ENST00000375208.3_Missense_Mutation_p.R780H	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		AAACTCGTTGCGCCGAGCCTT	0.592000													4	38					0	0	0.009096	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751635	33751635	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:33751635G>A	ENST00000504830.1	-	3	843	c.508C>T	c.(508-510)Cca>Tca	p.P170S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P170S|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P170S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	170					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCCATGTGGTAGTTGGAAA	0.378000										HNSCC(64;0.19)			6	122					0	0	0.003080	0	0
DTX1	1840	broad.mit.edu	37	12	113534535	113534535	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:113534535A>T	ENST00000257600.3	+	9	2157	c.1654A>T	c.(1654-1656)Atc>Ttc	p.I552F	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	552					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCGGCTGCTCATCACGGCCTG	0.652000													5	18					0	0	0.000602	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475331	50475331	+	RNA	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:50475331C>A	ENST00000602139.1	+	0	1277									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.R418C(1)|p.R380C(1)		endometrium(2)|kidney(2)|lung(6)	10						GGGCTCCCAGCGCGTCTCTCT	0.662000													16	33					2.32078e-09	3.28561e-09	0.003163	1	0
PLD5	200150	broad.mit.edu	37	1	242511458	242511458	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:242511458C>T	ENST00000427495.1	-	2	215	c.90G>A	c.(88-90)atG>atA	p.M30I	PLD5_ENST00000536534.1_Missense_Mutation_p.M92I|PLD5_ENST00000442594.2_5'UTR	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	92						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CATCCTCTCCCATGATGTCCA	0.458000													47	67					0	0	0.003610	0	0
FAM118A	55007	broad.mit.edu	37	22	45726535	45726535	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr22:45726535G>C	ENST00000216214.3	+	6	1408	c.574G>C	c.(574-576)Ggc>Cgc	p.G192R	FAM118A_ENST00000441876.2_Missense_Mutation_p.G192R|FAM118A_ENST00000405548.3_Missense_Mutation_p.G10R	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	192						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCACATTCACGGCCTCTACAC	0.522000													10	33					0	0	0.006214	0	0
YIPF3	25844	broad.mit.edu	37	6	43480928	43480928	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:43480928G>T	ENST00000372422.2	-	6	727	c.545C>A	c.(544-546)aCc>aAc	p.T182N	YIPF3_ENST00000506469.1_Missense_Mutation_p.T188N	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	182					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCCCATCAGGGTGCCCTCCCG	0.587000													44	135					6.21074e-16	1.04063e-15	0.011902	1	0
OR5J2	282775	broad.mit.edu	37	11	55944484	55944484	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:55944484C>A	ENST00000312298.1	+	1	391	c.391C>A	c.(391-393)Ctt>Att	p.L131I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAGTCCCTTGCTTTACACTGT	0.453000													19	65					1.00905e-13	1.62168e-13	0.008871	1	0
CHRNG	1146	broad.mit.edu	37	2	233406084	233406084	+	Splice_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:233406084C>A	ENST00000389494.3	+	5	372	c.350_splice	c.e5-1	p.N117_splice	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	117					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GTGCATACAGCGTGGACGGTG	0.657000													13	107					7.03913e-09	9.70383e-09	0.001368	1	0
EZH2	2146	broad.mit.edu	37	7	148515173	148515173	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:148515173C>T	ENST00000320356.2	-	10	1157	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	EZH2_ENST00000536783.1_3'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.E332K|EZH2_ENST00000483967.1_Missense_Mutation_p.E332K|EZH2_ENST00000478654.1_Missense_Mutation_p.E332K|EZH2_ENST00000476773.1_Missense_Mutation_p.E332K|EZH2_ENST00000460911.1_Missense_Mutation_p.E341K|EZH2_ENST00000350995.2_Missense_Mutation_p.E302K	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	341					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTATCCGCTCAGCGGTGAGA	0.498000			Mis		DLBCL								15	149					0	0	0.002450	0	0
NDST4	64579	broad.mit.edu	37	4	115998118	115998118	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:115998118G>A	ENST00000264363.2	-	2	753	c.75C>T	c.(73-75)agC>agT	p.S25S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	25						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATGACAATGCTCACCAAGC	0.358000													6	20					0	0	0.001168	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820165	159820165	+	RNA	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:159820165C>A	ENST00000497452.1	-	0	517																											GTCCAATACTCAAGACAGGCT	0.418000													39	141					6.2361e-21	1.14208e-20	0.007835	1	0
CPED1	79974	broad.mit.edu	37	7	120884330	120884330	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:120884330C>A	ENST00000310396.5	+	18	2715	c.2248C>A	c.(2248-2250)Cac>Aac	p.H750N	CPED1_ENST00000423795.1_Missense_Mutation_p.H530N|CPED1_ENST00000450913.2_Missense_Mutation_p.H750N	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGCAGCCCCACAACTGCCA	0.493000													22	60					7.45023e-12	1.13373e-11	0.010504	1	0
MPPE1	65258	broad.mit.edu	37	18	11885719	11885719	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:11885719G>A	ENST00000588072.1	-	10	2185	c.964C>T	c.(964-966)Cca>Tca	p.P322S	MPPE1_ENST00000399978.2_Missense_Mutation_p.P323S|MPPE1_ENST00000344987.7_Missense_Mutation_p.P300S|MPPE1_ENST00000317235.7_Missense_Mutation_p.P259S|MPPE1_ENST00000309976.9_Missense_Mutation_p.P259S	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	322					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTGAAAGATGGGACGCTGAGC	0.527000													5	42					0	0	0.001168	0	0
ZW10	9183	broad.mit.edu	37	11	113631271	113631271	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:113631271C>A	ENST00000200135.3	-	4	528	c.384G>T	c.(382-384)gaG>gaT	p.E128D		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	128	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CATACTTCTTCTCTGTTAATG	0.338000													29	98					8.58068e-18	1.48512e-17	0.007291	1	0
PRDM2	7799	broad.mit.edu	37	1	14107117	14107117	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:14107117G>T	ENST00000235372.7	+	8	3683	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y	PRDM2_ENST00000413440.1_Missense_Mutation_p.D742Y|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.D742Y|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.D943Y	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	943	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTCCACACCTGATGTTTGTCC	0.582000													60	154					1.83847e-13	2.94717e-13	0.003610	1	0
ABCB1	5243	broad.mit.edu	37	7	87160794	87160794	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:87160794G>A	ENST00000265724.3	-	22	2918	c.2501C>T	c.(2500-2502)gCt>gTt	p.A834V	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.A770V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	834	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGTAATTACAGCAAGCCTGGA	0.343000													15	29					0	0	0.002450	0	0
CNR1	1268	broad.mit.edu	37	6	88853946	88853946	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:88853946C>G	ENST00000537554.1	-	2	4610	c.1048G>C	c.(1048-1050)Gtg>Ctg	p.V350L	CNR1_ENST00000369501.2_Missense_Mutation_p.V350L|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Missense_Mutation_p.V350L|CNR1_ENST00000369499.2_Missense_Mutation_p.V350L|CNR1_ENST00000535130.1_Missense_Mutation_p.V350L|CNR1_ENST00000549716.1_Missense_Mutation_p.V289L|CNR1_ENST00000468898.1_Missense_Mutation_p.V317L|CNR1_ENST00000428600.2_Missense_Mutation_p.V350L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	350					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATCAACACCACCAGGATCAGG	0.522000													5	120					0	0	0.001168	0	0
MPPE1	65258	broad.mit.edu	37	18	11885721	11885721	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:11885721A>C	ENST00000588072.1	-	10	2183	c.962T>G	c.(961-963)gTc>gGc	p.V321G	MPPE1_ENST00000399978.2_Missense_Mutation_p.V322G|MPPE1_ENST00000344987.7_Missense_Mutation_p.V299G|MPPE1_ENST00000317235.7_Missense_Mutation_p.V258G|MPPE1_ENST00000309976.9_Missense_Mutation_p.V258G	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	321					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GAAAGATGGGACGCTGAGCTC	0.527000													7	41					0	0	0.003080	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649518	75649518	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:75649518G>C	ENST00000361470.2	+	1	1473	c.1195G>C	c.(1195-1197)Gga>Cga	p.G399R		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	399	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGCCCCTGACGGACCGGGAAG	0.642000													8	20					0	0	0.003080	0	0
KCNA4	3739	broad.mit.edu	37	11	30034191	30034191	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:30034191C>A	ENST00000328224.6	-	2	1268	c.35G>T	c.(34-36)gGg>gTg	p.G12V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	12						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTGTTGCACCCTGAGCTCTC	0.562000													41	134					1.04594e-18	1.84578e-18	0.006230	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171777438	171777438	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:171777438T>A	ENST00000311601.5	-	10	1111	c.941A>T	c.(940-942)aAg>aTg	p.K314M	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.K314M	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	314					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCAGCTCCTTCTCCCTGCC	0.677000													34	28					0	0	0.012213	0	0
FA2H	79152	broad.mit.edu	37	16	74750356	74750356	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:74750356G>A	ENST00000219368.3	-	6	997	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	FA2H_ENST00000544337.1_Missense_Mutation_p.L97F	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	310					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ATGTCATAGAGGACGTAGCCC	0.597000													12	18					0	0	0.002450	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319110	130319110	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:130319110C>T	ENST00000299164.2	+	1	242	c.242C>T	c.(241-243)aCt>aTt	p.T81I		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	81					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCTTCTCCACTGAGCATCTG	0.597000													29	76					0	0	0.007291	0	0
CRIP3	401262	broad.mit.edu	37	6	43275482	43275482	+	Splice_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:43275482C>A	ENST00000372569.3	-	4	201		c.e4-1		CRIP3_ENST00000274990.4_Splice_Site|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3							cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ATGTTCACCCCTGAAGAGAGA	0.612000													20	62					2.4624e-09	3.46274e-09	0.008871	1	0
PREPL	9581	broad.mit.edu	37	2	44548542	44548542	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:44548542C>A	ENST00000541738.1	-	14	2256	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PREPL_ENST00000378520.3_Missense_Mutation_p.D647Y|PREPL_ENST00000409936.1_Missense_Mutation_p.D713Y|PREPL_ENST00000409957.1_Missense_Mutation_p.D624Y|PREPL_ENST00000409411.1_Missense_Mutation_p.D624Y|PREPL_ENST00000410081.1_Missense_Mutation_p.D713Y|PREPL_ENST00000409272.1_Missense_Mutation_p.D713Y|SLC3A1_ENST00000260649.6_3'UTR|PREPL_ENST00000260648.6_Missense_Mutation_p.D713Y|PREPL_ENST00000378511.3_Missense_Mutation_p.D651Y	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	713					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGTGCTGTCAAGTCCAAGT	0.343000													7	27					0.00307968	0.00333367	0.003080	1	0
FREM1	158326	broad.mit.edu	37	9	14737474	14737474	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:14737474C>A	ENST00000380881.4	-	38	7278	c.6463G>T	c.(6463-6465)Gtt>Ttt	p.V2155F	FREM1_ENST00000422223.2_Missense_Mutation_p.V2154F|FREM1_ENST00000380894.1_Missense_Mutation_p.V690F|FREM1_ENST00000380880.3_Missense_Mutation_p.V2154F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2154	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTCTTTGAACCAAAACACAG	0.478000													7	24					2.0095e-06	2.49701e-06	0.001984	1	0
OR56A3	390083	broad.mit.edu	37	11	5968677	5968677	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:5968677C>A	ENST00000329564.6	+	1	108	c.101C>A	c.(100-102)cCc>cAc	p.P34H		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCCCTGCCCCTCAGCCTC	0.572000													62	71					3.76628e-20	6.83792e-20	0.003610	1	0
SLAMF1	6504	broad.mit.edu	37	1	160616670	160616670	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:160616670G>C	ENST00000302035.6	-	1	415	c.66C>G	c.(64-66)agC>agG	p.S22R	SLAMF1_ENST00000538290.1_Missense_Mutation_p.S22R|SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000355199.3_Missense_Mutation_p.S22R|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S22R	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	22					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGTTCCGTAGCTTGCCCCAA	0.557000													6	42					0	0	0.001168	0	0
OR2L2	26246	broad.mit.edu	37	1	248202247	248202247	+	Silent	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:248202247C>G	ENST00000366479.2	+	1	774	c.678C>G	c.(676-678)cgC>cgG	p.R226R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGTCTACCGCATGCACTCTG	0.483000													107	129					0	0	0.003610	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397583	22397583	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:22397583G>T	ENST00000263160.3	+	10	1667	c.1230G>T	c.(1228-1230)ggG>ggT	p.G410G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	410					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATACTAGAGGGGTAGCAATCT	0.373000													7	220					2.74318e-10	4.02845e-10	0.006214	1	0
CEBPE	1053	broad.mit.edu	37	14	23587927	23587927	+	Missense_Mutation	SNP	C	C	T	rs61737804		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:23587927C>T	ENST00000206513.5	-	1	898	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTCTGGCCCCCGGGGCTCCTC	0.672000													4	54					0	0	0.000602	0	0
RGS12	6002	broad.mit.edu	37	4	3441281	3441281	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:3441281G>T	ENST00000344733.5	+	18	5118	c.4214G>T	c.(4213-4215)gGg>gTg	p.G1405V	RGS12_ENST00000338806.4_Missense_Mutation_p.G757V	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1405						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCATAGCGGGGGCACAGGCT	0.662000													10	38					2.17888e-05	2.58025e-05	0.006214	1	0
MTG1	92170	broad.mit.edu	37	10	135209744	135209744	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:135209744G>T	ENST00000468317.2	+	4	525	c.270G>T	c.(268-270)atG>atT	p.M90I	MTG1_ENST00000317502.6_Missense_Mutation_p.M85I|MTG1_ENST00000477902.2_Missense_Mutation_p.M44I																							TCAACAAGATGGACTTGGCGG	0.498000													48	78					1.02687e-29	1.95446e-29	0.013114	1	0
LCE2D	353141	broad.mit.edu	37	1	152636902	152636902	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:152636902G>T	ENST00000368784.1	+	2	376	c.321G>T	c.(319-321)ggG>ggT	p.G107G		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	107	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGCTCTGGGGGCTGCTGCT	0.592000													24	145					2.21704e-12	3.39837e-12	0.002780	1	0
ITGA4	3676	broad.mit.edu	37	2	182399575	182399575	+	Silent	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:182399575C>G	ENST00000397033.2	+	27	3346	c.2916C>G	c.(2914-2916)ccC>ccG	p.P972P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	972					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAAAGACCCAAACGTTATT	0.313000													4	35					0	0	0.009096	0	0
RNASEH1	246243	broad.mit.edu	37	2	3598004	3598004	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:3598004C>A	ENST00000315212.3	-	4	823	c.468G>T	c.(466-468)ccG>ccT	p.P156P		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	156	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TTCCTGCTCGCGGCCTTCTAC	0.502000													47	116					3.39706e-21	6.23949e-21	0.003610	1	0
LUM	4060	broad.mit.edu	37	12	91502264	91502264	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:91502264G>T	ENST00000266718.4	-	2	947	c.493C>A	c.(493-495)Cat>Aat	p.H165N	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	165					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGCTGGAGATGGATGAAGGTC	0.453000													11	48					7.03913e-09	9.70383e-09	0.001368	1	0
RPAP1	26015	broad.mit.edu	37	15	41823309	41823309	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41823309G>A	ENST00000304330.4	-	7	971	c.855C>T	c.(853-855)ccC>ccT	p.P285P	RPAP1_ENST00000561603.1_Silent_p.P285P|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	285						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATTAGCAGAGGGTCCTCCTG	0.572000													58	170					0	0	0.003610	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209835	19209835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:19209835C>A	ENST00000375341.3	-	6	798	c.541G>T	c.(541-543)Gag>Tag	p.E181*	ALDH4A1_ENST00000538839.1_Nonsense_Mutation_p.E181*|ALDH4A1_ENST00000538309.1_Nonsense_Mutation_p.E121*|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Nonsense_Mutation_p.E181*	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	181					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCTGCCCCTCCAGCTCCACC	0.637000													21	30					6.33239e-15	1.04435e-14	0.010504	1	0
PDE6B	5158	broad.mit.edu	37	4	651145	651145	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:651145G>A	ENST00000255622.6	+	10	1306	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	PDE6B_ENST00000496514.1_Silent_p.L421L|PDE6B_ENST00000429163.2_Silent_p.L142L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	421	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCCAGTCCCTGACACAGTTCC	0.637000													8	22					0	0	0.003080	0	0
F8	2157	broad.mit.edu	37	X	154158987	154158987	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:154158987T>C	ENST00000360256.4	-	14	3278	c.3078A>G	c.(3076-3078)tcA>tcG	p.S1026S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1026	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATTAGTTGCTGAATTATTGG	0.333000													60	57					0	0	0.003610	0	0
WHSC1	7468	broad.mit.edu	37	4	1920134	1920134	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:1920134G>T	ENST00000503128.1	+	5	1401	c.1194G>T	c.(1192-1194)aaG>aaT	p.K398N	WHSC1_ENST00000398261.1_Missense_Mutation_p.K398N|WHSC1_ENST00000514045.1_Missense_Mutation_p.K398N|WHSC1_ENST00000420906.2_Missense_Mutation_p.K398N|WHSC1_ENST00000382892.2_Missense_Mutation_p.K398N|WHSC1_ENST00000382895.3_Missense_Mutation_p.K398N|WHSC1_ENST00000508803.1_Missense_Mutation_p.K398N|WHSC1_ENST00000382891.5_Missense_Mutation_p.K398N			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	398					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTCCCATGAAGAGAAGGCGGA	0.532000			T	IGH@	MM								5	41					0.000602214	0.000670309	0.000602	1	0
ZHX1	11244	broad.mit.edu	37	8	124266145	124266145	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:124266145C>A	ENST00000395571.3	-	3	2659	c.2042G>T	c.(2041-2043)cGg>cTg	p.R681L	ZHX1_ENST00000522655.1_Missense_Mutation_p.R681L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.R681L	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	681					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CCACTGTGTCCGGACAAATGC	0.478000													29	52					5.77227e-19	1.02437e-18	0.008361	1	0
RPAP1	26015	broad.mit.edu	37	15	41823373	41823373	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41823373G>C	ENST00000304330.4	-	7	907	c.791C>G	c.(790-792)tCt>tGt	p.S264C	RPAP1_ENST00000561603.1_Missense_Mutation_p.S264C|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	264						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGGCTGTGAGATCTCAAGAA	0.572000													47	137					0	0	0.003610	0	0
SCAND3	114821	broad.mit.edu	37	6	28539765	28539765	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:28539765G>A	ENST00000452236.2	-	4	4518	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1301					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gctaccctcaggggataatgt	0.338000													17	45					0	0	0.004007	0	0
DIP2A	23181	broad.mit.edu	37	21	47929244	47929244	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:47929244C>T	ENST00000318711.7	+	7	1045	c.862C>T	c.(862-864)Cca>Tca	p.P288S	DIP2A_ENST00000427143.2_Missense_Mutation_p.P223S|DIP2A_ENST00000457905.3_Missense_Mutation_p.P287S|DIP2A_ENST00000417564.2_Missense_Mutation_p.P287S|DIP2A_ENST00000466639.1_Missense_Mutation_p.P244S|DIP2A_ENST00000400274.1_Missense_Mutation_p.P287S|DIP2A_ENST00000435722.3_Missense_Mutation_p.P287S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	287					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AAAGCGCCCTCCACTGAAGGA	0.493000													44	85					0	0	0.003610	0	0
NCF2	4688	broad.mit.edu	37	1	183536055	183536055	+	Splice_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:183536055C>A	ENST00000413720.1	-	8	1063	c.789_splice	c.e8+1	p.Q263_splice	NCF2_ENST00000418089.1_Splice_Site_p.Q227_splice|NCF2_ENST00000367536.1_Splice_Site_p.Q308_splice|NCF2_ENST00000367535.3_Splice_Site_p.Q308_splice	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	308	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATCACATTACCTGGGGCTGCT	0.542000													32	45					3.62531e-18	6.32671e-18	0.004289	1	0
WDR64	128025	broad.mit.edu	37	1	241912881	241912881	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:241912881C>A	ENST00000366552.2	+	13	1804	c.1597C>A	c.(1597-1599)Cag>Aag	p.Q533K	WDR64_ENST00000437684.2_Missense_Mutation_p.Q533K	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	533										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGGCAGTGGGCAGGAGATGAA	0.493000													35	62					3.62531e-18	6.32671e-18	0.004289	1	0
RASA3	22821	broad.mit.edu	37	13	114781695	114781695	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr13:114781695C>A	ENST00000334062.7	-	13	1380	c.1259G>T	c.(1258-1260)gGa>gTa	p.G420V	RASA3_ENST00000389544.4_Missense_Mutation_p.G388V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	420	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AAGGTTTTCTCCGTCTTTCAA	0.507000													11	30					3.86212e-05	4.51417e-05	0.008291	1	0
MBNL3	55796	broad.mit.edu	37	X	131540343	131540343	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:131540343C>T	ENST00000538204.1	-	2	170	c.105G>A	c.(103-105)cgG>cgA	p.R35R	MBNL3_ENST00000370857.3_Silent_p.R85R|MBNL3_ENST00000370839.3_Silent_p.R85R|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370853.3_Silent_p.R85R|MBNL3_ENST00000370849.3_Silent_p.R35R|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000394311.2_5'UTR	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	85					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCAGATTGTTCCGCCCATTAA	0.488000													15	114					0	0	0.002450	0	0
ANKK1	255239	broad.mit.edu	37	11	113264300	113264300	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:113264300G>T	ENST00000303941.3	+	2	377	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	95	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAGCCCCTGGGTATTGTGAT	0.512000													10	33					7.48243e-07	9.56172e-07	0.006214	1	0
PCDH10	57575	broad.mit.edu	37	4	134072738	134072738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:134072738C>A	ENST00000264360.4	+	1	2269	c.1443C>A	c.(1441-1443)taC>taA	p.Y481*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	481	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGGCGCCTACATCTACGCGG	0.602000													24	94					2.98393e-07	3.88404e-07	0.002780	1	0
PPM1E	22843	broad.mit.edu	37	17	57046944	57046944	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:57046944G>T	ENST00000308249.2	+	4	957	c.828G>T	c.(826-828)ggG>ggT	p.G276G		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	285	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATGGCCATGGGGGAGTAGATG	0.493000													23	50					2.21704e-12	3.39837e-12	0.002780	1	0
OR2M5	127059	broad.mit.edu	37	1	248308862	248308862	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:248308862C>G	ENST00000366476.1	+	1	413	c.413C>G	c.(412-414)cCc>cGc	p.P138R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATGAGACCCAAAATTTGT	0.458000													55	332					0	0	0.003610	0	0
OTUD4	54726	broad.mit.edu	37	4	146058708	146058708	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:146058708C>A	ENST00000454497.2	-	21	3161	c.3024G>T	c.(3022-3024)tgG>tgT	p.W1008C	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.W1073C	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1072							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCTGTCCTTTCCAGGACTCCT	0.473000													61	161					4.17052e-40	8.08439e-40	0.003610	1	0
RBM19	9904	broad.mit.edu	37	12	114386693	114386693	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:114386693C>A	ENST00000545145.2	-	10	1299	c.1221G>T	c.(1219-1221)cgG>cgT	p.R407R	RBM19_ENST00000392561.3_Silent_p.R407R|RBM19_ENST00000261741.5_Silent_p.R407R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	407	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AGGGCAGGTTCCGTACAAAGA	0.592000													25	58					3.01185e-09	4.21659e-09	0.003954	1	0
UGT8	7368	broad.mit.edu	37	4	115544302	115544302	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:115544302A>T	ENST00000310836.6	+	2	788	c.266A>T	c.(265-267)aAg>aTg	p.K89M	UGT8_ENST00000394511.3_Missense_Mutation_p.K89M	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	89					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CTACAGTCCAAGATGCGGAAT	0.473000													19	60					0	0	0.008871	0	0
OR51A4	401666	broad.mit.edu	37	11	4967808	4967808	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:4967808G>T	ENST00000380373.2	-	1	548	c.523C>A	c.(523-525)Caa>Aaa	p.Q175K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		TGGGATAATTGGTTTTTCTTG	0.418000													41	247					4.17593e-13	6.61015e-13	0.007835	1	0
SERPINB12	89777	broad.mit.edu	37	18	61232776	61232776	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:61232776C>A	ENST00000382768.1	+	6	804	c.804C>A	c.(802-804)acC>acA	p.T268T	SERPINB12_ENST00000269491.1_Silent_p.T248T			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	248					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGAGGTACACCAAGGGGAAGC	0.443000													4	79					0.00024832	0.000280361	0.009096	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077263	19077263	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:19077263C>A	ENST00000329773.2	-	2	774	c.687G>T	c.(685-687)gtG>gtT	p.V229V		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	229					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGAACACCAGCACTGTGAGCA	0.532000													25	45					1.85244e-09	2.62846e-09	0.003330	1	0
TTC39C	125488	broad.mit.edu	37	18	21698196	21698196	+	Splice_Site	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:21698196G>T	ENST00000540918.2	+	3	515	c.265_splice	c.e3+1	p.V89_splice	TTC39C_ENST00000317571.3_Splice_Site_p.V396_splice|TTC39C_ENST00000304621.6_Splice_Site_p.V335_splice|RP11-799B12.2_ENST00000583782.1_RNA			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	396							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CTTGACTGCAGGTGAGTCGCC	0.493000													5	45					0.000602214	0.000670309	0.000602	1	0
CDK15	65061	broad.mit.edu	37	2	202755521	202755521	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:202755521T>C	ENST00000410091.3	+	14	1408	c.1059T>C	c.(1057-1059)ttT>ttC	p.F353F	CDK15_ENST00000450471.2_Intron|CDK15_ENST00000374598.4_Silent_p.F404F|CDK15_ENST00000260967.2_Silent_p.F353F			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	404	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGTCTTTGTTTACAGTTTCAG	0.428000													9	39					0	0	0.008291	0	0
TRIM27	5987	broad.mit.edu	37	6	28872429	28872429	+	Silent	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:28872429C>G	ENST00000377199.3	-	8	1316	c.960G>C	c.(958-960)ctG>ctC	p.L320L	TRIM27_ENST00000377194.3_Silent_p.L320L	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	320	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGTCTGGGTCCAGAGTCACGT	0.557000			T	RET	papillary thyroid								7	39					0	0	0.001984	0	0
SART1	9092	broad.mit.edu	37	11	65733831	65733831	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:65733831G>T	ENST00000312397.5	+	9	1084	c.992G>T	c.(991-993)cGc>cTc	p.R331L		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	331					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAAAAACCTCGCTCTATCCTG	0.607000													24	35					1.55469e-16	2.64005e-16	0.003330	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906475	144906475	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:144906475G>A	ENST00000370490.1	+	1	6787	c.2532G>A	c.(2530-2532)caG>caA	p.Q844Q	SLITRK2_ENST00000428560.2_Silent_p.Q844Q|SLITRK2_ENST00000434188.2_Silent_p.Q844Q|SLITRK2_ENST00000447897.2_Silent_p.Q844Q|SLITRK2_ENST00000413937.2_Silent_p.Q844Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	844						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAATCAGTCAGCTGTGAAGGG	0.458000													72	51					0	0	0.003610	0	0
RPAP1	26015	broad.mit.edu	37	15	41823307	41823307	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41823307G>A	ENST00000304330.4	-	7	973	c.857C>T	c.(856-858)tCt>tTt	p.S286F	RPAP1_ENST00000561603.1_Missense_Mutation_p.S286F|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	286						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACATTAGCAGAGGGTCCTCC	0.572000													57	168					0	0	0.003610	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630516	43630516	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:43630516T>C	ENST00000332857.6	-	1	214	c.186A>G	c.(184-186)agA>agG	p.R62R		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TCCTTACCTTTCTCTTCCCAG	0.468000													61	40					0	0	0.003610	0	0
ZBTB49	166793	broad.mit.edu	37	4	4317389	4317389	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:4317389G>A	ENST00000337872.4	+	6	1524	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GACGTCCAGCGTCACATTATT	0.403000													3	21					0	0	0.004672	0	0
UBE2A	7319	broad.mit.edu	37	X	118709339	118709339	+	Splice_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:118709339C>A	ENST00000371558.2	+	3	301	c.125_splice	c.e3-1	p.P43_splice	UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Splice_Site_p.P43_splice	NM_003336.2|NM_181762.1	NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	43					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GTGTTGCAGGCCTGAAGGGAC	0.542000								Rad6 pathway					24	119					7.92952e-12	1.20376e-11	0.003954	1	0
CDH23	64072	broad.mit.edu	37	10	73558329	73558329	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:73558329T>A	ENST00000224721.6	+	49	7068	c.7063T>A	c.(7063-7065)Tcg>Acg	p.S2355T	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S110T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2350	Cadherin 22.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGGACTCCTCGGCAGGTAG	0.597000													9	22					0	0	0.004482	0	0
DCHS1	8642	broad.mit.edu	37	11	6648047	6648047	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:6648047C>A	ENST00000299441.3	-	14	6634	c.6223G>T	c.(6223-6225)Gct>Tct	p.A2075S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2075	Cadherin 20.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGAATCGTAGCCTCACTGCTA	0.587000													5	34					3.59834e-05	4.22151e-05	0.001168	1	0
CRMP1	1400	broad.mit.edu	37	4	5862766	5862766	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:5862766C>A	ENST00000324989.7	-	3	730	c.642G>T	c.(640-642)ggG>ggT	p.G214G	CRMP1_ENST00000397890.2_Silent_p.G100G|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.G98G	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	100					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TCATCGTGGTCCCGCCCACCA	0.582000													6	35					0.00198382	0.00215484	0.001984	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541593	133541593	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:133541593G>A	ENST00000409261.1	-	14	3164	c.2791C>T	c.(2791-2793)Ccc>Tcc	p.P931S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P931S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	931	Poly-Pro.			PP -> QS (in Ref. 5; BAA22433).			protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTGGAGGGGGCGGAGGGGAA	0.622000													4	30					0	0	0.009096	0	0
LIG3	3980	broad.mit.edu	37	17	33323660	33323660	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:33323660G>C	ENST00000378526.4	+	11	1944	c.1811G>C	c.(1810-1812)aGc>aCc	p.S604T	LIG3_ENST00000262327.5_Missense_Mutation_p.S604T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	604					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AATGATGTCAGCTTGATGGAC	0.433000								Other BER factors					12	102					0	0	0.010729	0	0
HERC1	8925	broad.mit.edu	37	15	63988517	63988517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:63988517G>A	ENST00000443617.2	-	27	5014	c.4927C>T	c.(4927-4929)Cag>Tag	p.Q1643*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1643					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACGAGGATCTGATGAAGTGCC	0.413000													3	9					0	0	0.004672	0	0
ZIM3	114026	broad.mit.edu	37	19	57647108	57647108	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:57647108G>C	ENST00000269834.1	-	5	982	c.597C>G	c.(595-597)agC>agG	p.S199R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCTTCCACAGCTATGACATT	0.433000													37	134					0	0	0.006230	0	0
ACVR1	90	broad.mit.edu	37	2	158656003	158656003	+	Translation_Start_Site	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:158656003C>A	ENST00000263640.3	-	3	432	c.3G>T	c.(1-3)atG>atT	p.M1I	ACVR1_ENST00000410057.2_Start_Codon_SNP_p.M1I|ACVR1_ENST00000409283.2_Start_Codon_SNP_p.M1I|ACVR1_ENST00000434821.1_Start_Codon_SNP_p.M1I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	1					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTCCATCTACCATTGTACAAC	0.383000													10	27					0.00136819	0.00149906	0.001368	1	0
ZPBP	11055	broad.mit.edu	37	7	50023026	50023026	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:50023026T>C	ENST00000046087.2	-	7	942	c.873A>G	c.(871-873)gaA>gaG	p.E291E	ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Silent_p.E290E	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	291					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGAGAGTACCTTCAATATAGT	0.353000													11	26					0	0	0.010729	0	0
DPP6	1804	broad.mit.edu	37	7	154172070	154172070	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:154172070T>C	ENST00000404039.1	+	3	800	c.213T>C	c.(211-213)gaT>gaC	p.D71D	DPP6_ENST00000427557.1_Silent_p.D73D|DPP6_ENST00000406326.1_Silent_p.D135D|DPP6_ENST00000377770.3_Silent_p.D135D|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.D73D	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	135					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGTAGAAGATCTCTTCAGTG	0.403000													7	60					0	0	0.001984	0	0
SLC35A2	7355	broad.mit.edu	37	X	48767203	48767203	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:48767203G>A	ENST00000376521.1	-	2	483	c.162C>T	c.(160-162)atC>atT	p.I54I	SLC35A2_ENST00000376512.1_Silent_p.I54I|SLC35A2_ENST00000376529.3_Silent_p.I54I|SLC35A2_ENST00000445167.2_Silent_p.I54I|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376515.3_Silent_p.I30I|SLC35A2_ENST00000452555.2_Silent_p.I82I|SLC35A2_ENST00000247138.5_Silent_p.I54I	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	54					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GGGCGTAGCGGATGCTGAGGA	0.612000													7	32					0	0	0.001984	0	0
ABCA7	10347	broad.mit.edu	37	19	1055905	1055905	+	Splice_Site	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:1055905G>T	ENST00000263094.6	+	31	4436		c.e31-1		ABCA7_ENST00000433129.1_Splice_Site|ABCA7_ENST00000435683.2_Splice_Site	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7						phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CTCTCCCACAGCCTGAAGACT	0.582000													45	31					3.68337e-26	6.88583e-26	0.003610	1	0
BRCA2	675	broad.mit.edu	37	13	32907344	32907344	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr13:32907344G>T	ENST00000544455.1	+	10	1956	c.1729G>T	c.(1729-1731)Gca>Tca	p.A577S	BRCA2_ENST00000380152.3_Missense_Mutation_p.A577S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	577					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTGAAGAATGCAGGTTTAAT	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			9	45					3.09899e-07	3.98441e-07	0.004482	1	0
ZNF534	147658	broad.mit.edu	37	19	52937242	52937242	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:52937242T>G	ENST00000332323.6	+	2	111	c.50T>G	c.(49-51)tTc>tGc	p.F17C	ZNF534_ENST00000301085.4_Missense_Mutation_p.F17C|ZNF534_ENST00000433050.1_Missense_Mutation_p.F17C|ZNF534_ENST00000432303.2_Missense_Mutation_p.F17C	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GCCATAGAATTCTCTCAGGAG	0.453000													27	64					0	0	0.005443	0	0
PRSS58	136541	broad.mit.edu	37	7	141952344	141952344	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:141952344G>T	ENST00000552471.1	-	4	843	c.524C>A	c.(523-525)aCg>aAg	p.T175K	PRSS58_ENST00000547058.2_Missense_Mutation_p.T175K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CATATTTTCCGTGATGTTGTA	0.433000													28	75					1.88708e-17	3.23941e-17	0.008361	1	0
ABCC8	6833	broad.mit.edu	37	11	17419927	17419927	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:17419927G>A	ENST00000302539.4	-	30	3840	c.3715C>T	c.(3715-3717)Ctc>Ttc	p.L1239F	ABCC8_ENST00000389817.3_Missense_Mutation_p.L1238F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1238	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTGAGGAAGAGGGAAGCAATG	0.552000													5	74					0	0	0.001984	0	0
RAI2	10742	broad.mit.edu	37	X	17818712	17818712	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:17818712G>T	ENST00000545871.1	-	3	1879	c.1419C>A	c.(1417-1419)tcC>tcA	p.S473S	RAI2_ENST00000451717.1_Silent_p.S473S|RAI2_ENST00000415486.3_Silent_p.S423S|RAI2_ENST00000360011.1_Silent_p.S473S|RAI2_ENST00000331511.1_Silent_p.S473S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	473					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCTGAAGCACGGAGTCTTCTC	0.478000													38	276					1.69901e-12	2.64291e-12	0.005524	1	0
OR5D14	219436	broad.mit.edu	37	11	55563449	55563449	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:55563449C>A	ENST00000335605.1	+	1	418	c.418C>A	c.(418-420)Cag>Aag	p.Q140K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGCCATGTCACAGAGGCTCTG	0.537000													19	86					1.67942e-08	2.29508e-08	0.006122	1	0
CNOT1	23019	broad.mit.edu	37	16	58608961	58608961	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:58608961C>T	ENST00000317147.5	-	15	2109	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	CNOT1_ENST00000441024.2_Missense_Mutation_p.E593K|CNOT1_ENST00000569240.1_Missense_Mutation_p.E593K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	593					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTGAGGTATTCACGACGTGAA	0.393000													8	71					0	0	0.003080	0	0
GJB4	127534	broad.mit.edu	37	1	35227283	35227283	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:35227283C>A	ENST00000339480.1	+	2	798	c.428C>A	c.(427-429)gCt>gAt	p.A143D	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	143					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCGTGGATGCTGGCTTCCTC	0.607000													17	44					2.48551e-13	3.95421e-13	0.004990	1	0
BTBD17	388419	broad.mit.edu	37	17	72356255	72356255	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:72356255G>T	ENST00000375366.3	-	2	341	c.215C>A	c.(214-216)gCg>gAg	p.A72E		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	72	BTB.					extracellular region				endometrium(1)|kidney(1)|lung(4)	6						ATCGGTGCCCGCAGCCTGCAC	0.662000													12	30					2.27111e-07	2.96232e-07	0.001368	1	0
GABRA2	2555	broad.mit.edu	37	4	46264116	46264116	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:46264116G>T	ENST00000510861.1	-	9	1059	c.886C>A	c.(886-888)Cta>Ata	p.L296I	GABRA2_ENST00000515082.1_Missense_Mutation_p.L296I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L296I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L296I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L241I|GABRA2_ENST00000507069.1_Missense_Mutation_p.L296I|GABRA2_ENST00000356504.1_Missense_Mutation_p.L296I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	296					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGATGCTTAGAGTTGTCATT	0.418000													4	22					0.00024832	0.000280361	0.009096	1	0
FAM47C	442444	broad.mit.edu	37	X	37027649	37027649	+	Missense_Mutation	SNP	C	C	T	rs148424680	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:37027649C>T	ENST00000358047.3	+	1	1218	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	389										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGCGTACCTCCTCTCCGCCCA	0.617000													35	85					0	0	0.003755	0	0
RPAP1	26015	broad.mit.edu	37	15	41820069	41820069	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41820069G>T	ENST00000304330.4	-	11	1533	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	RPAP1_ENST00000561603.1_Missense_Mutation_p.P473T	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	473						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCATCTCCAGGAGCCACCAGC	0.582000													4	49					1.23904e-05	1.49539e-05	0.000602	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994821	143994821	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:143994821G>T	ENST00000323110.2	-	6	1003	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	334					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGCACGTCGGGGTTCCGAGC	0.637000									Familial Hyperaldosteronism type I				33	86					1.36161e-19	2.45091e-19	0.004289	1	0
CAPN5	726	broad.mit.edu	37	11	76833670	76833670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:76833670C>A	ENST00000278559.3	+	12	1841	c.1652C>A	c.(1651-1653)tCg>tAg	p.S551*	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.S591*|CAPN5_ENST00000529629.1_Nonsense_Mutation_p.S551*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	551	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.S551L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AAAGTCCGCTCGGCTGTGCAG	0.582000													21	39					8.10497e-08	1.07724e-07	0.010504	1	0
CCDC158	339965	broad.mit.edu	37	4	77272874	77272874	+	Splice_Site	SNP	T	T	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:77272874T>G	ENST00000388914.3	-	16	2689	c.2538_splice	c.e16+1	p.K846_splice		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	846										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGACCTTACTTTTATATCCAA	0.323000													6	21					0	0	0.001168	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506637	37506637	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:37506637A>T	ENST00000374660.1	+	39	3386	c.3287A>T	c.(3286-3288)cAa>cTa	p.Q1096L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q977L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q977L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1089						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTTTAAACCAAGAAGAAGAG	0.289000													9	28					0	0	0.006214	0	0
CXCR3	2833	broad.mit.edu	37	X	70837092	70837092	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:70837092A>T	ENST00000373691.4	-	2	534	c.371T>A	c.(370-372)gTg>gAg	p.V124E	CXCR3_ENST00000373693.3_Missense_Mutation_p.V77E	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	77					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GCTCAGCAGCACGGCTGCCAC	0.662000													3	8					0	0	0.004672	0	0
MYADM	91663	broad.mit.edu	37	19	54377348	54377348	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:54377348G>T	ENST00000391769.2	+	3	845	c.565G>T	c.(565-567)Gcg>Tcg	p.A189S	MYADM_ENST00000391768.2_Missense_Mutation_p.A189S|MYADM_ENST00000391770.4_Missense_Mutation_p.A189S|MYADM_ENST00000391771.1_Missense_Mutation_p.A189S|MYADM_ENST00000336967.3_Missense_Mutation_p.A189S	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	189	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CATCATCTTCGCGTTCATCAG	0.652000													31	154					3.99451e-17	6.83842e-17	0.009535	1	0
AFF1	4299	broad.mit.edu	37	4	88035845	88035845	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:88035845C>T	ENST00000307808.6	+	11	2259	c.1839C>T	c.(1837-1839)gcC>gcT	p.A613A	AFF1_ENST00000395146.4_Silent_p.A620A|AFF1_ENST00000544085.1_Silent_p.A251A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	613						nucleus	sequence-specific DNA binding transcription factor activity	p.A620A(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGGCCTCTGCCCGGGCAGGTT	0.587000													21	51					0	0	0.008871	0	0
PRDM9	56979	broad.mit.edu	37	5	23527395	23527395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:23527395C>A	ENST00000296682.3	+	11	2380	c.2198C>A	c.(2197-2199)tCa>tAa	p.S733*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	733					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGCAATAAGTCACACCTCCTC	0.582000										HNSCC(3;0.000094)			29	135					6.4308e-24	1.19159e-23	0.003610	1	0
LRP1B	53353	broad.mit.edu	37	2	141806654	141806654	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:141806654G>A	ENST00000389484.3	-	11	2661	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	564					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTCTGCGTGAAAGTCTAAA	0.438000										TSP Lung(27;0.18)			8	111					0	0	0.006214	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784509	140784509	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:140784509A>T	ENST00000573521.1	+	1	1990	c.1990A>T	c.(1990-1992)Ata>Tta	p.I664L	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGTAGCCATAGCTGACAG	0.592000													44	48					0	0	0.007835	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883154	19883154	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:19883154C>A	ENST00000300571.2	-	2	1205	c.1014G>T	c.(1012-1014)atG>atT	p.M338I	GPRC5B_ENST00000569847.1_Missense_Mutation_p.M338I|GPRC5B_ENST00000537135.1_Missense_Mutation_p.M364I|GPRC5B_ENST00000535671.1_Missense_Mutation_p.M338I|GPRC5B_ENST00000569479.1_Missense_Mutation_p.M338I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	338										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGTGTTCATCCATGGAGAAGG	0.587000													23	133					2.21704e-12	3.39837e-12	0.002780	1	0
OR4M2	390538	broad.mit.edu	37	15	22369217	22369217	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:22369217G>T	ENST00000332663.2	+	1	740	c.642G>T	c.(640-642)ctG>ctT	p.L214L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGATTGCTCTGTTAATGTCCT	0.483000													46	421					1.56793e-16	2.65536e-16	0.003610	1	0
SLC22A8	9376	broad.mit.edu	37	11	62782359	62782359	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:62782359C>A	ENST00000336232.2	-	2	207	c.72G>T	c.(70-72)ctG>ctT	p.L24L	SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.L24L|SLC22A8_ENST00000430500.2_Silent_p.L24L|SLC22A8_ENST00000535878.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	24					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCGGGAGGCCCAGTATGGCTA	0.607000													5	170					3.59834e-05	4.22151e-05	0.001168	1	0
C4orf17	84103	broad.mit.edu	37	4	100443848	100443848	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:100443848C>A	ENST00000514652.1	+	3	673	c.319C>A	c.(319-321)Cct>Act	p.P107T	C4orf17_ENST00000326581.4_Missense_Mutation_p.P107T|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	107										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TGCCAAAGTGCCTCCACGGCC	0.498000													9	49					5.68852e-11	8.4324e-11	0.004482	1	0
MUC16	94025	broad.mit.edu	37	19	8976586	8976586	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:8976586G>A	ENST00000397910.4	-	74	42593	c.42390C>T	c.(42388-42390)tcC>tcT	p.S14130S	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.S771S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14161	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACCTGAGGGAGATCAGTT	0.557000													9	16					0	0	0.004482	0	0
APBB3	10307	broad.mit.edu	37	5	139941196	139941196	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:139941196A>T	ENST00000357560.4	-	8	1166	c.723T>A	c.(721-723)agT>agA	p.S241R	APBB3_ENST00000508496.2_Missense_Mutation_p.S18R|APBB3_ENST00000511201.2_Missense_Mutation_p.S239R|APBB3_ENST00000356738.2_Missense_Mutation_p.S246R|APBB3_ENST00000358580.5_Missense_Mutation_p.S241R|APBB3_ENST00000412920.3_Missense_Mutation_p.S239R|APBB3_ENST00000354402.5_Missense_Mutation_p.S248R	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	241	PID 1.					actin cytoskeleton|cytoplasm		p.S248R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTAGGGCACTGGCAATGG	0.542000													78	98					0	0	0.003610	0	0
PHLDB3	653583	broad.mit.edu	37	19	44001416	44001416	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:44001416C>A	ENST00000292140.5	-	6	1039	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	PHLDB3_ENST00000599242.1_Missense_Mutation_p.D227Y	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	227								p.D227Y(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TGGGCCACATCCAGTTGTTCC	0.622000													7	28					2.0095e-06	2.49701e-06	0.001984	1	0
SULT1A2	6799	broad.mit.edu	37	16	28604843	28604843	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr16:28604843T>C	ENST00000395630.1	-	5	769	c.419A>G	c.(418-420)tAc>tGc	p.Y140C	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Missense_Mutation_p.Y140C	NM_177528.2	NP_803564.1	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	140					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GTAGAAGTGGTAGTAGGAAAC	0.577000													52	47					0	0	0.003610	0	0
DLGAP5	9787	broad.mit.edu	37	14	55643878	55643878	+	Silent	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:55643878C>T	ENST00000247191.2	-	8	1167	c.951G>A	c.(949-951)ctG>ctA	p.L317L	DLGAP5_ENST00000395425.2_Silent_p.L317L	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	317					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCAGACCATCCAGTGGCTGAA	0.383000													18	34					0	0	0.006122	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292808	4292808	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:4292808C>T	ENST00000301272.2	-	5	682	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	TMIGD2_ENST00000600349.1_Missense_Mutation_p.G41R|TMIGD2_ENST00000600114.1_Missense_Mutation_p.G93R|TMIGD2_ENST00000595645.1_Missense_Mutation_p.G209R	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	213						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCCTTCCCCTCTCCAGAG	0.622000													53	42					0	0	0.003610	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638377	149638377	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:149638377G>C	ENST00000370401.2	+	4	842	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	MAMLD1_ENST00000426613.2_Missense_Mutation_p.E153Q|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E178Q|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E153Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	178					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCTTCAAGAGCTGCTAGA	0.478000													17	170					0	0	0.004990	0	0
TPR	7175	broad.mit.edu	37	1	186324788	186324788	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:186324788C>A	ENST00000367478.3	-	16	2297	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	667					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCCTTAGCCTCTATAGCCT	0.413000			T	NTRK1	papillary thyroid								15	88					1.3612e-06	1.72547e-06	0.003163	1	0
TTC29	83894	broad.mit.edu	37	4	147741356	147741356	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:147741356A>G	ENST00000513335.1	-	11	1299	c.1100T>C	c.(1099-1101)gTg>gCg	p.V367A	TTC29_ENST00000325106.4_Missense_Mutation_p.V341A|TTC29_ENST00000398886.4_Missense_Mutation_p.V367A			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	341							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGCAATTTTCACAAATTTTTT	0.343000													11	47					0	0	0.010729	0	0
MPPE1	65258	broad.mit.edu	37	18	11885720	11885720	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:11885720G>A	ENST00000588072.1	-	10	2184	c.963C>T	c.(961-963)gtC>gtT	p.V321V	MPPE1_ENST00000399978.2_Silent_p.V322V|MPPE1_ENST00000344987.7_Silent_p.V299V|MPPE1_ENST00000317235.7_Silent_p.V258V|MPPE1_ENST00000309976.9_Silent_p.V258V	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	321					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TGAAAGATGGGACGCTGAGCT	0.532000													6	41					0	0	0.001984	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923135	159923135	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:159923135T>C	ENST00000368093.3	-	2	471	c.355A>G	c.(355-357)Atc>Gtc	p.I119V	SLAMF9_ENST00000368092.3_Missense_Mutation_p.I119V|SLAMF9_ENST00000466773.1_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	119						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGGTAGAGATCTGGGATGTT	0.498000													63	63					0	0	0.003610	0	0
ZNF98	148198	broad.mit.edu	37	19	22586258	22586258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:22586258G>T	ENST00000357774.5	-	2	208	c.87C>A	c.(85-87)tgC>tgA	p.C29*	ZNF98_ENST00000601553.1_Nonsense_Mutation_p.C29*	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CGGTGTCCAGGCATTGCCACT	0.413000													49	72					1.89013e-27	3.56521e-27	0.003610	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103182692	103182692	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:103182692G>T	ENST00000375735.2	+	79	11723	c.11579G>T	c.(11578-11580)cGa>cTa	p.R3860L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3867L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3860	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.R1300Q(3)|p.R1300P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATACACATCGAGCTCATGCT	0.358000													8	38					0.000274275	0.00030856	0.004482	1	0
HDC	3067	broad.mit.edu	37	15	50540498	50540498	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:50540498G>A	ENST00000267845.3	-	10	1486	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	362					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACGAACCAGAGTTTAACAGAG	0.542000													17	45					0	0	0.004007	0	0
RPAP1	26015	broad.mit.edu	37	15	41822100	41822100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:41822100G>A	ENST00000304330.4	-	8	1137	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.Q341*|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	341						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCAAGTCCTGGGTCCAGTGG	0.612000													7	21					0	0	0.003080	0	0
MGAT5B	146664	broad.mit.edu	37	17	74921063	74921063	+	Silent	SNP	G	G	A	rs114240204	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr17:74921063G>A	ENST00000569840.2	+	9	1615	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MGAT5B_ENST00000428789.2_Silent_p.P358P|MGAT5B_ENST00000301618.4_Silent_p.P347P	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	347						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGGGGTACCGCCAGGCCGGG	0.607000													15	112					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179412568	179412568	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:179412568A>T	ENST00000589042.1	-	339	94009	c.93785T>A	c.(93784-93786)gTg>gAg	p.V31262E	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22322E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28694E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V29621E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22389E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22197E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29621	Fibronectin type-III 128.						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)			TGTAATGCTCACTCGATCTGT	0.453000													6	47					0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766126	77766126	+	Silent	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:77766126G>A	ENST00000521891.2	+	10	7417	c.6969G>A	c.(6967-6969)agG>agA	p.R2323R	ZFHX4_ENST00000455469.2_Silent_p.R2278R|ZFHX4_ENST00000518282.1_Silent_p.R2297R|ZFHX4_ENST00000050961.6_Silent_p.R2278R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2278						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCCCCAGGATCTTTGACT	0.398000										HNSCC(33;0.089)			24	95					0	0	0.002299	0	0
IRX4	50805	broad.mit.edu	37	5	1878849	1878849	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:1878849G>T	ENST00000505790.1	-	6	1250	c.794C>A	c.(793-795)cCg>cAg	p.P265Q	IRX4_ENST00000513692.1_Missense_Mutation_p.P265Q|IRX4_ENST00000231357.2_Missense_Mutation_p.P265Q	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	265					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGCTTCCAGCGGGTCGAAGTC	0.682000													17	29					3.41278e-10	4.95404e-10	0.004990	1	0
ABCD2	225	broad.mit.edu	37	12	40013091	40013091	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr12:40013091C>A	ENST00000308666.3	-	1	462	c.327G>T	c.(325-327)ctG>ctT	p.L109L		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	109	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCACTGAGTGCAGGCAGAGCC	0.438000													13	47					0.00136819	0.00149906	0.001368	1	0
REG3A	5068	broad.mit.edu	37	2	79386464	79386464	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:79386464T>A	ENST00000393878.1	-	1	322	c.68A>T	c.(67-69)cAg>cTg	p.Q23L	REG3A_ENST00000409839.3_Missense_Mutation_p.Q23L|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.Q23L	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	23					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACCTTGAACCTGAGACAGCAG	0.527000													12	37					0	0	0.010729	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617141	64617141	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:64617141G>T	ENST00000498707.1	-	16	2721	c.2379C>A	c.(2377-2379)gaC>gaA	p.D793E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D765E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	793	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTAAGTAGTTGTCATCGTCTG	0.483000													6	108					8.12818e-05	9.34445e-05	0.001984	1	0
ANKRD12	23253	broad.mit.edu	37	18	9255152	9255152	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr18:9255152T>C	ENST00000383440.2	+	8	2075	c.1818T>C	c.(1816-1818)caT>caC	p.H606H	ANKRD12_ENST00000262126.3_Silent_p.H629H|ANKRD12_ENST00000400020.3_Silent_p.H606H	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	629						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGAAGATCATAGTCCAACAT	0.289000													5	63					0	0	0.001168	0	0
DST	667	broad.mit.edu	37	6	56819367	56819367	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:56819367G>T	ENST00000370754.5	-	1	18	c.19C>A	c.(19-21)Ctc>Atc	p.L7I				Q03001	DYST_HUMAN	dystonin	0					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCAAGACGAGGAAAGCCGCG	0.682000													7	14					8.12818e-05	9.34445e-05	0.001984	1	0
SLC23A2	9962	broad.mit.edu	37	20	4842670	4842670	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:4842670G>T	ENST00000379333.1	-	15	1940	c.1548C>A	c.(1546-1548)aaC>aaA	p.N516K	SLC23A2_ENST00000424750.2_Missense_Mutation_p.N402K|SLC23A2_ENST00000338244.1_Missense_Mutation_p.N516K	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	516					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACAAAGAGGTTCCGGGAAG	0.468000													12	33					1.08611e-07	1.43448e-07	0.010729	1	0
NPR3	4883	broad.mit.edu	37	5	32780871	32780871	+	Silent	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:32780871T>C	ENST00000265074.8	+	5	1582	c.1239T>C	c.(1237-1239)taT>taC	p.Y413Y	NPR3_ENST00000434067.2_Silent_p.Y197Y|NPR3_ENST00000415167.2_Silent_p.Y413Y|NPR3_ENST00000415685.2_Silent_p.Y197Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	413					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACCGATATGGGGATTTCT	0.552000													63	196					0	0	0.003610	0	0
MFNG	4242	broad.mit.edu	37	22	37882095	37882095	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr22:37882095G>C	ENST00000356998.3	-	1	344	c.121C>G	c.(121-123)Ctg>Gtg	p.L41V	MFNG_ENST00000416983.3_Missense_Mutation_p.L41V	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	41					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GGCTGGCTCAGCTCGGGGGTC	0.652000													10	36					0	0	0.001368	0	0
MYOF	26509	broad.mit.edu	37	10	95116586	95116586	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:95116586T>C	ENST00000371501.4	-	30	3262	c.3140A>G	c.(3139-3141)gAc>gGc	p.D1047G	MYOF_ENST00000371502.4_Missense_Mutation_p.D1047G|MYOF_ENST00000359263.4_Missense_Mutation_p.D1047G|MYOF_ENST00000358334.5_Missense_Mutation_p.D1034G			Q9NZM1	MYOF_HUMAN	myoferlin	1047					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCCTCTTGGTCTTGCAATTC	0.398000													9	23					0	0	0.008291	0	0
ZNF610	162963	broad.mit.edu	37	19	52869860	52869860	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:52869860G>T	ENST00000601151.1	+	5	1552	c.1100G>T	c.(1099-1101)gGg>gTg	p.G367V	ZNF610_ENST00000327920.8_Missense_Mutation_p.G410V|ZNF610_ENST00000403906.3_Missense_Mutation_p.G410V|ZNF610_ENST00000321287.8_Missense_Mutation_p.G410V	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAAGTCTTTGGGCGCAAATTA	0.423000													7	35					0.00307968	0.00333367	0.003080	1	0
ZDHHC24	254359	broad.mit.edu	37	11	66311271	66311271	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:66311271C>T	ENST00000310442.3	-	2	697	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.V155M	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	155	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCCAGCAGCACAGAGACGTGG	0.692000											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	26					0	0	0.009096	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221651	118221651	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:118221651C>A	ENST00000402510.2	-	11	3541	c.3542G>T	c.(3541-3543)gGc>gTc	p.G1181V		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1181										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTTAGAAGTGCCTTCAACAGC	0.463000													7	53					1.26484e-09	1.80692e-09	0.003080	1	0
TMEM187	8269	broad.mit.edu	37	X	153247646	153247646	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:153247646G>A	ENST00000369982.4	+	2	880	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	45						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGCGCCCGTGGCCGGCCT	0.662000													17	180					0	0	0.007413	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586918	42586918	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:42586918C>G	ENST00000289957.2	+	5	596	c.468C>G	c.(466-468)gaC>gaG	p.D156E		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	156					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCACCATGGACGTCACGTTTT	0.507000													8	46					0	0	0.003080	0	0
DLG1	1739	broad.mit.edu	37	3	196867097	196867097	+	Silent	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr3:196867097C>A	ENST00000346964.2	-	9	915	c.726G>T	c.(724-726)acG>acT	p.T242T	DLG1_ENST00000452595.1_Silent_p.T126T|DLG1_ENST00000450955.1_Silent_p.T209T|DLG1_ENST00000448528.2_Silent_p.T242T|DLG1_ENST00000443183.1_Silent_p.T126T|DLG1_ENST00000314062.3_Silent_p.T191T|DLG1_ENST00000422288.1_Silent_p.T191T|DLG1_ENST00000392382.2_Silent_p.T209T|DLG1_ENST00000357674.4_Silent_p.T209T|DLG1_ENST00000419354.1_Silent_p.T242T	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	242	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTGGGTTGTCCGTACCTCCTG	0.428000													14	49					6.72482e-11	9.94516e-11	0.003163	1	0
MYOM2	9172	broad.mit.edu	37	8	2046747	2046747	+	Missense_Mutation	SNP	G	G	T	rs34863717	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:2046747G>T	ENST00000262113.4	+	19	2515	c.2374G>T	c.(2374-2376)Ggc>Tgc	p.G792C	MYOM2_ENST00000523438.1_Missense_Mutation_p.G217C	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	792	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAACCTGGCCGGCATCGGGGA	0.562000													5	13					0.000602214	0.000670309	0.000602	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136405847	136405847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:136405847C>A	ENST00000393061.3	+	6	1299	c.867C>A	c.(865-867)tgC>tgA	p.C289*	ADAMTSL2_ENST00000393060.1_Nonsense_Mutation_p.C180*|ADAMTSL2_ENST00000354484.4_Nonsense_Mutation_p.C180*			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	180					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GAGGGGTTTGCGTGTCTGGAA	0.637000													16	26					3.52763e-06	4.34064e-06	0.004990	1	0
WBP1L	54838	broad.mit.edu	37	10	104572996	104572996	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr10:104572996C>A	ENST00000369889.4	+	4	1079	c.937C>A	c.(937-939)Ccg>Acg	p.P313T	WBP1L_ENST00000448841.1_Missense_Mutation_p.P334T	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	313						integral to membrane											GCCTGGGCACCCGCACCTGCC	0.662000													18	63					1.99824e-07	2.61723e-07	0.004990	1	0
OR6B1	135946	broad.mit.edu	37	7	143701161	143701161	+	Silent	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:143701161G>T	ENST00000408922.2	+	1	140	c.72G>T	c.(70-72)cgG>cgT	p.R24R		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TGAGTATGCGGGCAGCCATGT	0.502000													19	41					3.8784e-16	6.51572e-16	0.012319	1	0
SLC10A3	8273	broad.mit.edu	37	X	153716440	153716440	+	Missense_Mutation	SNP	G	G	T	rs151043660		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:153716440G>T	ENST00000263512.4	-	2	1338	c.840C>A	c.(838-840)gaC>gaA	p.D280E	SLC10A3_ENST00000393586.1_Missense_Mutation_p.D335E|SLC10A3_ENST00000393587.4_Missense_Mutation_p.D280E|SLC10A3_ENST00000369649.4_Missense_Mutation_p.D251E	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	280					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGTGACGTCCCCTCCAA	0.622000													13	103					7.03913e-09	9.70383e-09	0.001368	1	0
CXorf57	55086	broad.mit.edu	37	X	105882817	105882817	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:105882817G>T	ENST00000372548.4	+	9	1743	c.1634G>T	c.(1633-1635)aGg>aTg	p.R545M	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	545										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGCAGTATAGGGAACAAAAG	0.408000													15	118					2.23348e-06	2.76987e-06	0.004007	1	0
PAPPA	5069	broad.mit.edu	37	9	119106938	119106938	+	Missense_Mutation	SNP	G	G	T	rs142176678		TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr9:119106938G>T	ENST00000328252.3	+	14	4097	c.3728G>T	c.(3727-3729)cGg>cTg	p.R1243L	PAPPA_ENST00000534838.1_Missense_Mutation_p.R281L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1243	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGCTGCCGGACAGGCTAC	0.582000													33	45					2.80507e-11	4.18767e-11	0.012213	1	0
MIR1303	100302284	broad.mit.edu	37	5	154065361	154065361	+	RNA	SNP	A	A	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:154065361A>G	ENST00000408625.1	+	0	26					NR_031638.1																						cgagacctcaactctacaaTt	0.483000													17	17					0	0	0.004990	0	0
TRBC2	28638	broad.mit.edu	37	7	142498960	142498960	+	RNA	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:142498960C>A	ENST00000466254.1	+	0	236																											TGAGCAGCCGCCTGAGGGTCT	0.622000													18	150					6.49762e-13	1.01576e-12	0.006122	1	0
NFASC	23114	broad.mit.edu	37	1	204985633	204985633	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:204985633C>T	ENST00000367172.4	+	32	4338	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	NFASC_ENST00000367169.4_Missense_Mutation_p.T1061M|NFASC_ENST00000401399.1_Missense_Mutation_p.T1230M|NFASC_ENST00000339876.6_Missense_Mutation_p.T1230M|NFASC_ENST00000367170.4_Missense_Mutation_p.T1258M|NFASC_ENST00000513543.1_Missense_Mutation_p.T1159M|NFASC_ENST00000338586.6_Missense_Mutation_p.T1214M|NFASC_ENST00000404907.1_Missense_Mutation_p.T1164M|NFASC_ENST00000404076.1_Missense_Mutation_p.T1147M|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.T1159M|NFASC_ENST00000367171.4_Missense_Mutation_p.T1322M|NFASC_ENST00000539706.1_Missense_Mutation_p.T1164M|NFASC_ENST00000338515.6_Missense_Mutation_p.T1247M			O94856	NFASC_HUMAN	neurofascin	1337					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAGAGGCCACGTCACCTGTC	0.562000													35	47					0	0	0.003755	0	0
GPR65	8477	broad.mit.edu	37	14	88477216	88477216	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:88477216C>G	ENST00000267549.3	+	2	583	c.25C>G	c.(25-27)Cag>Gag	p.Q9E	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	9					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TATTGAAGAACAGCATGACCT	0.348000											OREG0031336	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	5	47					0	0	0.000602	0	0
ACTN2	88	broad.mit.edu	37	1	236881227	236881227	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:236881227T>A	ENST00000366578.4	+	2	362	c.196T>A	c.(196-198)Ttc>Atc	p.F66I	ACTN2_ENST00000542672.1_Missense_Mutation_p.F66I|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	66	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGAGGAAGACTTCAGGAATGG	0.463000													24	27					0	0	0.003330	0	0
IRS4	8471	broad.mit.edu	37	X	107977374	107977374	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:107977374C>A	ENST00000372129.2	-	1	2277	c.2201G>T	c.(2200-2202)cGa>cTa	p.R734L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	734	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			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						AAAAGGGGATCGAGAGTGGCG	0.498000													20	170					8.00594e-06	9.79367e-06	0.007413	1	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													7	18	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204978720	204978721	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr1:204978720_204978721insA	ENST00000367172.4	+	30	3974_3975	c.3646_3647insA	c.(3646-3648)ctgfs	p.L1216fs	NFASC_ENST00000367171.4_Frame_Shift_Ins_p.L1201fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.L1043fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.L1093fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.L1043fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.L1038fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.L1038fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.L940fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.L1026fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.L1109fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.L1109fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.L1126fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.L1137fs|NFASC_ENST00000495396.1_3'UTR			O94856	NFASC_HUMAN	neurofascin	1216					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGCCACCCAGGGCTGGTTCATT	0.589													17	115	---	---	---	---					
CTNNA2	1496	broad.mit.edu	37	2	79878782	79878783	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:79878782_79878783insA	ENST00000466387.1	+	6	824_825	c.100_101insA	c.(100-102)ggtfs	p.G34fs	CTNNA2_ENST00000496558.1_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000402739.4_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000361291.4_Frame_Shift_Ins_p.G68fs|CTNNA2_ENST00000541047.1_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000540488.1_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000409266.1_Frame_Shift_Ins_p.V34fs			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	34					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACTTGTTACACAGGTAAGGGAT	0.391													18	53	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189904256	189904257	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr2:189904256_189904257insA	ENST00000374866.3	-	51	3940_3941	c.3666_3667insT	c.(3664-3669)cccgggfs	p.G1223fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1223					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGGGACCCGGAGGGCCAGGTG	0.490													8	48	---	---	---	---					
COL25A1	84570	broad.mit.edu	37	4	109861693	109861694	+	Splice_Site	INS	-	-	C			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:109861693_109861694insC	ENST00000399132.1	-	10	1203		c.e10+1		COL25A1_ENST00000399127.1_Splice_Site|COL25A1_ENST00000399126.1_Splice_Site	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1							collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AAAGCGACTCACGGGTACTCCT	0.599													25	112	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155241794	155241794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr4:155241794delG	ENST00000357232.3	-	14	3391	c.3392delC	c.(3391-3393)aafs	p.T1131fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1131	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGCTGTTACTGTCAGGATGAC	0.483													39	150	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766239	13766239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:13766239delG	ENST00000265104.4	-	59	10051	c.9947delC	c.(9946-9948)ctfs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGAGGTGAGGGGGGCGGCC	0.532									Kartagener syndrome				71	135	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													8	322	---	---	---	---					
PCDHGA2	56113	broad.mit.edu	37	5	140719292	140719292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr5:140719292delC	ENST00000394576.2	+	1	754	c.754delC	c.(754-756)cgfs	p.P252fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAAGCATTCCGGAGAATAC	0.552													41	62	---	---	---	---					
BTN3A1	11119	broad.mit.edu	37	6	26411336	26411336	+	Splice_Site	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:26411336delG	ENST00000289361.6	+	8	1332		c.e8-1		BTN3A1_ENST00000476549.2_Splice_Site|BTN3A1_ENST00000425234.2_Splice_Site|BTN3A1_ENST00000414912.2_Splice_Site	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1						lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCATTGTAGGGGGAGAGAG	0.393													12	141	---	---	---	---					
TCP10	6953	broad.mit.edu	37	6	167791442	167791442	+	Splice_Site	DEL	C	C	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr6:167791442delC	ENST00000366827.2	-	4	629		c.e4+1		TCP10_ENST00000397829.4_Splice_Site			Q12799	TCP10_HUMAN	t-complex 10							cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGAAGGGTCACCTTTGGAGGA	0.527													10	132	---	---	---	---					
HECW1	23072	broad.mit.edu	37	7	43283514	43283514	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr7:43283514delC	ENST00000395891.1	+	3	615	c.10delC	c.(10-12)acfs	p.H4fs	AC004692.4_ENST00000458680.1_RNA|HECW1_ENST00000453890.1_Frame_Shift_Del_p.H4fs|AC004692.4_ENST00000457315.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	4					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TATGCTGCTGCACCTGTGTAG	0.448													21	63	---	---	---	---					
ANK1	286	broad.mit.edu	37	8	41552150	41552150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr8:41552150delG	ENST00000396942.1	-	28	3370	c.3287delC	c.(3286-3288)cgfs	p.P1096fs	ANK1_ENST00000379758.2_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000347528.4_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.P1137fs|ANK1_ENST00000289734.7_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000396945.1_Frame_Shift_Del_p.P1096fs			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1096					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P1096L(1)|p.P1137L(1)|p.P1137R(1)|p.P1096R(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCATTCTCCGGGAACGTTGC	0.632													7	24	---	---	---	---					
OR51M1	390059	broad.mit.edu	37	11	5410741	5410741	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:5410741delG	ENST00000328611.3	+	1	135	c.113delG	c.(112-114)tgfs	p.W38fs	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	38						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAAACACTGGATTTTCATC	0.423													12	175	---	---	---	---					
TRIM51HP	440041	broad.mit.edu	37	11	55063008	55063008	+	RNA	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr11:55063008delG	ENST00000526016.1	-	0	629					NR_038174.2																						AAAGCTCCCTGGAATGTTCCA	0.428													9	30	---	---	---	---					
NDRG2	57447	broad.mit.edu	37	14	21486164	21486164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr14:21486164delG	ENST00000556147.1	-	15	1871	c.931delC	c.(931-933)tgfs	p.L311fs	NDRG2_ENST00000554104.1_Frame_Shift_Del_p.L224fs|NDRG2_ENST00000360463.3_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000554143.1_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000553503.1_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000298687.5_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000397856.3_Frame_Shift_Del_p.L281fs|NDRG2_ENST00000397858.1_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000555158.1_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000298684.5_Frame_Shift_Del_p.L268fs|NDRG2_ENST00000397844.2_Frame_Shift_Del_p.L281fs|NDRG2_ENST00000397847.2_Frame_Shift_Del_p.L300fs|NDRG2_ENST00000397851.2_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000397853.3_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000397855.3_Frame_Shift_Del_p.L268fs|NDRG2_ENST00000403829.3_Frame_Shift_Del_p.L307fs|NDRG2_ENST00000350792.3_Frame_Shift_Del_p.L297fs			Q9UN36	NDRG2_HUMAN	NDRG family member 2	311					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATGCCTTGCAGGAAGTACTTG	0.562													26	202	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314																											TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557													4	6	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411													7	88	---	---	---	---					
LRP3	4037	broad.mit.edu	37	19	33698115	33698116	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:33698115_33698116insA	ENST00000253193.7	+	7	2149_2150	c.1947_1948insA	c.(1945-1950)gaccccfs	p.D649fs		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	649					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTGCCCCCGACCCCCCAGCACC	0.743													5	6	---	---	---	---					
HKR1	284459	broad.mit.edu	37	19	37854204	37854204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:37854204delG	ENST00000591471.1	+	9	2329	c.688delG	c.(688-690)ggfs	p.G230fs	HKR1_ENST00000541583.2_Frame_Shift_Del_p.G442fs|HKR1_ENST00000324411.4_Frame_Shift_Del_p.G503fs|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Frame_Shift_Del_p.G485fs|HKR1_ENST00000544914.1_Frame_Shift_Del_p.G230fs|HKR1_ENST00000392153.3_Frame_Shift_Del_p.G484fs			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	503					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACGGAGTGTGGGCGAGGCTT	0.532													14	78	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41798236	41798237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr19:41798236_41798237insT	ENST00000392006.3	+	8	1259_1260	c.1086_1087insT	c.(1084-1089)gctgggfs	p.G363fs	HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.G263fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.G263fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.G363fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.G274fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.G249fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.G263fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	363	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAAGGAAGCCTTGGGGGGTCA	0.505													23	142	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)caa>ca	p.QQ1030del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576													7	138	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56094353	56094353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr20:56094353delG	ENST00000426658.2	-	3	1496	c.835delC	c.(835-837)acfs	p.H279fs	CTCFL_ENST00000423479.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000539382.1_Frame_Shift_Del_p.H74fs|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Frame_Shift_Del_p.H17fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.H279fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	279					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCACTGGTGTGAGTTTTCATA	0.458													16	68	---	---	---	---					
LTN1	26046	broad.mit.edu	37	21	30313665	30313666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr21:30313665_30313666insA	ENST00000361371.4	-	25	4508_4509	c.4358_4359insT	c.(4357-4359)tggfs	p.W1453fs	LTN1_ENST00000389194.2_Frame_Shift_Ins_p.W1499fs	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1453							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAATACACCCCAAAACATTTTC	0.366													64	47	---	---	---	---					
GAB4	128954	broad.mit.edu	37	22	17472833	17472833	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chr22:17472833delG	ENST00000400588.1	-	2	515	c.408delC	c.(406-408)acfs	p.T136fs	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	136	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGTCCTCCCTGGTCTCAGCCA	0.502													54	215	---	---	---	---					
FANCB	2187	broad.mit.edu	37	X	14871289	14871289	+	Splice_Site	DEL	C	C	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:14871289delC	ENST00000398334.1	-	6	1465	c.1197_splice	c.e6-1	p.V400_splice	FANCB_ENST00000324138.3_Splice_Site_p.V400_splice	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	400					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAAAAACAAACCTGTAAAGTA	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	28	---	---	---	---					
MAGEA6	4105	broad.mit.edu	37	X	151870201	151870201	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7554-01A-11D-2036-08	TCGA-97-7554-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1279b038-abe8-4ac4-accb-8a566da2b2fc	e05893e7-9426-44cc-8f63-c4e6e4daf500	g.chrX:151870201delT	ENST00000329342.5	+	3	1116	c.891delT	c.(889-891)ccfs	p.P297fs		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	297	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAGGACCTCGCATTTCCT	0.557													39	346	---	---	---	---					
