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
ABCB5	340273	broad.mit.edu	37	7	20778674	20778674	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:20778674C>G	ENST00000404938.2	+	24	3588	c.2936C>G	c.(2935-2937)tCc>tGc	p.S979C	ABCB5_ENST00000258738.6_Missense_Mutation_p.S534C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	534					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCTGAATATTCCAAAGCCAAA	0.428000													16	35					0	0	0.004007	0	0
SORCS1	114815	broad.mit.edu	37	10	108536324	108536324	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr10:108536324C>T	ENST00000263054.6	-	4	860	c.853G>A	c.(853-855)Gac>Aac	p.D285N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D285N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	285						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGAATCCAGTCTTCTTGTTTG	0.413000													61	145					0	0	0.003610	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958724	111958724	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr3:111958724A>T	ENST00000305815.5	-	12	1661	c.1409T>A	c.(1408-1410)aTg>aAg	p.M470K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.M422K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	470					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTTCTCAATCATGTTCCAATC	0.338000													13	61					0	0	0.001855	0	0
CTNNA1	1495	broad.mit.edu	37	5	138266210	138266210	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr5:138266210C>G	ENST00000302763.7	+	15	2149	c.2059C>G	c.(2059-2061)Cag>Gag	p.Q687E	CTNNA1_ENST00000518825.1_Missense_Mutation_p.Q687E|CTNNA1_ENST00000540387.1_Missense_Mutation_p.Q317E|CTNNA1_ENST00000355078.5_Missense_Mutation_p.Q584E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	687					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATTGCGGAACAGGTGGCCAG	0.483000													44	103					0	0	0.008740	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559724	140559724	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr5:140559724C>T	ENST00000239444.2	+	1	2354	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		703					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTCTTCCTCTTCTCGGTGC	0.677000													92	217					0	0	0.003610	0	0
MYADM	91663	broad.mit.edu	37	19	54377408	54377408	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:54377408G>T	ENST00000391769.2	+	3	905	c.625G>T	c.(625-627)Gtg>Ttg	p.V209L	MYADM_ENST00000391768.2_Missense_Mutation_p.V209L|MYADM_ENST00000391770.4_Missense_Mutation_p.V209L|MYADM_ENST00000336967.3_Missense_Mutation_p.V209L|MYADM_ENST00000391771.1_Missense_Mutation_p.V209L	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	209	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)		GTGCGTGGCGGTGTACGCCAT	0.627000													84	205					1.16668e-32	6.72784e-32	0.003610	1	0
ACTN1	87	broad.mit.edu	37	14	69378902	69378902	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr14:69378902C>A	ENST00000193403.6	-	4	781	c.398G>T	c.(397-399)cGc>cTc	p.R133L	ACTN1_ENST00000438964.2_Missense_Mutation_p.R133L|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.R133L|ACTN1_ENST00000394419.4_Missense_Mutation_p.R133L|ACTN1_ENST00000376839.3_Missense_Mutation_p.R68L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	133	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GATGGCAAAGCGCAGGATGAT	0.552000											OREG0022758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	151					1.95512e-22	1.00218e-21	0.003610	1	0
GNG13	51764	broad.mit.edu	37	16	849012	849012	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr16:849012G>T	ENST00000248150.4	-	2	167	c.66C>A	c.(64-66)ttC>ttA	p.F22L		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	22					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				TCTCCCGCTGGAAGGCCAGCT	0.607000													9	34					7.48243e-07	3.08205e-06	0.006214	1	0
ING4	51147	broad.mit.edu	37	12	6761453	6761453	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr12:6761453C>A	ENST00000341550.4	-	6	675	c.629G>T	c.(628-630)gGc>gTc	p.G210V	ING4_ENST00000446105.2_Missense_Mutation_p.G207V|ING4_ENST00000412586.2_Missense_Mutation_p.G208V|ING4_ENST00000486287.1_5'UTR|ING4_ENST00000396807.4_Missense_Mutation_p.G211V|ING4_ENST00000423703.2_Intron|ING4_ENST00000444704.2_Missense_Mutation_p.G187V			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	211					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GTTGTCACAGCCAATCATCTC	0.507000													51	110					3.39706e-21	1.7285e-20	0.003610	1	0
MLKL	197259	broad.mit.edu	37	16	74709626	74709626	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr16:74709626T>A	ENST00000308807.7	-	8	1538	c.1075A>T	c.(1075-1077)Atg>Ttg	p.M359L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	359	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCCAAACTCATGGAAGTCTGT	0.408000													38	94					0	0	0.005524	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461674	50461674	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:50461674G>T	ENST00000447370.2	-	8	1607	c.1517C>A	c.(1516-1518)aCc>aAc	p.T506N	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	506					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGAGCTGGGGGTGACCTCGAA	0.701000													16	35					3.41278e-10	1.47603e-09	0.004990	1	0
SETBP1	26040	broad.mit.edu	37	18	42531491	42531491	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr18:42531491G>T	ENST00000282030.5	+	4	2482	c.2186G>T	c.(2185-2187)aGg>aTg	p.R729M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	729						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)		AAGCGGGGCAGGAAGCCAAGA	0.577000									Schinzel-Giedion syndrome				21	53					5.26018e-13	2.36366e-12	0.001882	1	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													19	30					0	0	0.002780	0	0
LRRK1	79705	broad.mit.edu	37	15	101608898	101608898	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:101608898G>T	ENST00000284395.5	+	35	6284	c.5884G>T	c.(5884-5886)Gtg>Ttg	p.V1962L	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.V1965L|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1965					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCTGCCGTGGTGGCAAAGGA	0.597000													57	116					6.26901e-30	3.55587e-29	0.003610	1	0
SLC27A6	28965	broad.mit.edu	37	5	128362939	128362939	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr5:128362939G>T	ENST00000262462.4	+	7	2379	c.1369G>T	c.(1369-1371)Gat>Tat	p.D457Y	SLC27A6_ENST00000506176.1_Missense_Mutation_p.D457Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D457Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	457					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TAAGAAGGGAGATGTTTACCT	0.378000													58	117					9.72345e-25	5.29813e-24	0.003610	1	0
SLC11A1	6556	broad.mit.edu	37	2	219249006	219249006	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:219249006C>T	ENST00000233202.6	+	3	531	c.191C>T	c.(190-192)cCt>cTt	p.P64L	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_Intron	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	64	Pro/Ser-rich.				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCACGGGGCCTGGCTTCCTC	0.597000													74	217					0	0	0.003610	0	0
BCAP31	10134	broad.mit.edu	37	X	152967486	152967486	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:152967486C>G	ENST00000458587.2	-	7	1308	c.879G>C	c.(877-879)ttG>ttC	p.L293F	BCAP31_ENST00000441714.1_Missense_Mutation_p.L226F|BCAP31_ENST00000345046.6_Missense_Mutation_p.L226F|BCAP31_ENST00000477175.1_Intron	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	226					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTCCAGCAAGCGGTCGT	0.587000													21	59					0	0	0.001882	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094060	143094060	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr6:143094060C>A	ENST00000367603.2	-	5	2558	c.1816G>T	c.(1816-1818)Gtg>Ttg	p.V606L	HIVEP2_ENST00000367604.1_Missense_Mutation_p.V606L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V606L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TCGACTTCCACGTGGCCCTCC	0.532000													53	74					9.16383e-17	4.37336e-16	0.003610	1	0
AGBL1	123624	broad.mit.edu	37	15	86800211	86800211	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:86800211G>C	ENST00000441037.2	+	7	820	c.725G>C	c.(724-726)gGg>gCg	p.G242A	AGBL1_ENST00000421325.2_Missense_Mutation_p.G242A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	242					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCGGTCCCCGGGTGCATCACC	0.502000													21	40					0	0	0.002780	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													5	198					0	0	0.001168	0	0
UNC79	57578	broad.mit.edu	37	14	94107507	94107507	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr14:94107507C>T	ENST00000553484.1	+	35	6154	c.6000C>T	c.(5998-6000)agC>agT	p.S2000S	UNC79_ENST00000256339.4_Silent_p.S1801S|UNC79_ENST00000555664.1_Silent_p.S1939S|UNC79_ENST00000393151.2_Silent_p.S1978S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1978						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						CCAAATCCAGCCTGCTATCAG	0.522000													10	30					0	0	0.008291	0	0
MBL2	4153	broad.mit.edu	37	10	54531287	54531287	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr10:54531287C>A	ENST00000373968.3	-	1	173	c.109G>T	c.(109-111)Gcc>Tcc	p.A37S		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	37	Cys-rich.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAGCTACAGGCAATCACTGCA	0.552000													45	74					1.51926e-22	7.84571e-22	0.003610	1	0
SCYL3	57147	broad.mit.edu	37	1	169831884	169831884	+	Missense_Mutation	SNP	C	C	A	rs143546688	byFrequency	TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:169831884C>A	ENST00000367772.4	-	10	1207	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	SCYL3_ENST00000367770.1_Missense_Mutation_p.R337L|SCYL3_ENST00000367771.5_Missense_Mutation_p.R337L|SCYL3_ENST00000470238.1_5'UTR	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	337					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGGATCACCCGTGACTGGAA	0.488000													6	396					0.00198382	0.00793527	0.001984	1	0
ETS2	2114	broad.mit.edu	37	21	40194699	40194699	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr21:40194699G>T	ENST00000360214.3	+	11	1756	c.1296G>T	c.(1294-1296)aaG>aaT	p.K432N	ETS2_ENST00000360938.3_Missense_Mutation_p.K432N	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	432					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCATCCACAAGACGTCGGGGA	0.587000													28	64					4.92203e-23	2.58033e-22	0.006230	1	0
COL4A5	1287	broad.mit.edu	37	X	107869498	107869498	+	Silent	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:107869498C>G	ENST00000328300.6	+	36	3409	c.3165C>G	c.(3163-3165)tcC>tcG	p.S1055S	COL4A5_ENST00000361603.2_Silent_p.S1055S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1055	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.S1055S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AACCTGGCTCCCCAGGATTAC	0.458000									Alport syndrome with Diffuse Leiomyomatosis				46	125					0	0	0.003610	0	0
STK11	6794	broad.mit.edu	37	19	1221946	1221946	+	Splice_Site	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:1221946A>T	ENST00000326873.7	+	7	2035		c.e7-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTCCTCAGGGATGCTTG	0.677000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	0					0	0	0.000602	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													3	7					0	0	0.004672	0	0
FAM110B	90362	broad.mit.edu	37	8	59059008	59059008	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr8:59059008G>C	ENST00000361488.3	+	5	1099	c.219G>C	c.(217-219)gaG>gaC	p.E73D	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	73						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCAAGCAGGAGCCCGTGAAGC	0.677000													30	61					0	0	0.002836	0	0
CILP2	148113	broad.mit.edu	37	19	19655215	19655215	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:19655215G>T	ENST00000586018.1	+	8	1981	c.1879G>T	c.(1879-1881)Gcc>Tcc	p.A627S	CILP2_ENST00000291495.4_Missense_Mutation_p.A621S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	621						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCGGCGTCTGCCCCCAGTGA	0.701000													53	74					1.46156e-29	8.22274e-29	0.003610	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	7					0	0	0.004672	0	0
PSG4	5672	broad.mit.edu	37	19	43708259	43708259	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:43708259C>G	ENST00000405312.3	-	2	446	c.209G>C	c.(208-210)gGg>gCg	p.G70A	PSG4_ENST00000433626.2_Missense_Mutation_p.G70A|PSG4_ENST00000244295.9_Missense_Mutation_p.G70A	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	70	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGTCATTTGCCCTTTGTACCA	0.423000													135	106					0	0	0.003610	0	0
GNG13	51764	broad.mit.edu	37	16	849011	849011	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr16:849011G>T	ENST00000248150.4	-	2	168	c.67C>A	c.(67-69)Cag>Aag	p.Q23K		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	23					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				ATCTCCCGCTGGAAGGCCAGC	0.607000													9	34					7.48243e-07	3.08205e-06	0.006214	1	0
NEB	4703	broad.mit.edu	37	2	152383524	152383524	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:152383524G>T	ENST00000427231.2	-	148	22055	c.21853C>A	c.(21853-21855)Ctg>Atg	p.L7285M	NEB_ENST00000603639.1_Missense_Mutation_p.L7285M|NEB_ENST00000172853.10_Missense_Mutation_p.L5584M|NEB_ENST00000604864.1_Missense_Mutation_p.L7285M|NEB_ENST00000409198.1_Missense_Mutation_p.L5584M|NEB_ENST00000397345.3_Missense_Mutation_p.L7285M	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5584					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCGGTCCAGCTTATATTCA	0.453000													6	24					2.7689e-08	1.16834e-07	0.001984	1	0
KIAA1109	84162	broad.mit.edu	37	4	123171706	123171706	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr4:123171706G>A	ENST00000264501.4	+	37	6273	c.5900G>A	c.(5899-5901)gGa>gAa	p.G1967E	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G1967E|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G1967E			Q2LD37	K1109_HUMAN	KIAA1109	1967					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GACTTAAATGGAAATTCTGTT	0.338000													39	75					0	0	0.008740	0	0
CPSF2	53981	broad.mit.edu	37	14	92625582	92625582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr14:92625582G>T	ENST00000298875.4	+	14	2362	c.2077G>T	c.(2077-2079)Gaa>Taa	p.E693*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	693					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)		AACAGGTGAAGAAAGTGAGAT	0.403000													18	77					2.39187e-15	1.11836e-14	0.008871	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270131	185270131	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:185270131C>G	ENST00000367498.3	-	10	1715	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.E147Q	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	365	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CCATTCATCTCTGCTGTTCCC	0.423000													39	157					0	0	0.002522	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276491	47276491	+	Silent	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:47276491G>A	ENST00000271153.4	+	2	228	c.192G>A	c.(190-192)acG>acA	p.T64T	CYP4B1_ENST00000371919.4_Silent_p.T64T|CYP4B1_ENST00000371923.4_Silent_p.T64T|CYP4B1_ENST00000546128.1_3'UTR			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	64					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCCAGGAGACGGGGAGCCTGG	0.577000													38	78					0	0	0.007835	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508846	161508846	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr6:161508846G>T	ENST00000392142.4	+	10	2831	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.V895L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.V895L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.V895L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	895					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCAGATGACGTACTCATCGA	0.493000													47	54					1.61004e-24	8.70427e-24	0.003610	1	0
SRSF4	6429	broad.mit.edu	37	1	29481238	29481238	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:29481238C>A	ENST00000373795.4	-	4	782	c.548G>T	c.(547-549)cGg>cTg	p.R183L	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	183	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GGAGTAGGACCGGCGTCGTCT	0.398000													29	73					6.00712e-18	2.94818e-17	0.002445	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755006	140755006	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr5:140755006C>T	ENST00000517434.1	+	1	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCACCTTCCCCCATTCAT	0.527000													6	327					0	0	0.001168	0	0
FAM117B	150864	broad.mit.edu	37	2	203591005	203591005	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:203591005T>A	ENST00000303116.6	+	4	889	c.147T>A	c.(145-147)agT>agA	p.S49R	FAM117B_ENST00000392238.2_Missense_Mutation_p.S293R	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	293	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TGCAGAGAAGTAAACACAGCA	0.408000													64	153					0	0	0.003610	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595072	140595072	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr5:140595072C>A	ENST00000341948.4	+	1	1564	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.602000													92	224					4.64247e-43	2.79356e-42	0.003610	1	0
ZNF677	342926	broad.mit.edu	37	19	53747009	53747009	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:53747009G>T	ENST00000333952.4	-	4	322	c.157C>A	c.(157-159)Cct>Act	p.P53T	ZNF677_ENST00000594681.1_Missense_Mutation_p.P53T|ZNF677_ENST00000601828.1_Missense_Mutation_p.P53T|ZNF677_ENST00000601413.1_Missense_Mutation_p.P53T|ZNF677_ENST00000598513.1_Missense_Mutation_p.P53T|ZNF677_ENST00000599012.1_Missense_Mutation_p.P53T|ZNF677_ENST00000598806.1_Missense_Mutation_p.P53T			Q86XU0	ZN677_HUMAN	zinc finger protein 677	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTTCTGGAGGGATGTTATCC	0.507000													55	131					1.82294e-38	1.08748e-37	0.003610	1	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													4	189					0	0	0.006214	0	0
COA6	388753	broad.mit.edu	37	1	234509375	234509375	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:234509375G>T	ENST00000366615.4	+	1	174	c.163G>T	c.(163-165)Gtt>Ttt	p.V55F		NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		CTGCGTGACAGTTTCCTCCCG	0.697000													57	207					6.176e-18	3.00971e-17	0.003610	1	0
TP63	8626	broad.mit.edu	37	3	189526252	189526252	+	Silent	SNP	A	A	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr3:189526252A>G	ENST00000264731.3	+	4	605	c.516A>G	c.(514-516)ccA>ccG	p.P172P	TP63_ENST00000440651.2_Silent_p.P172P|TP63_ENST00000418709.2_Silent_p.P172P|TP63_ENST00000392460.3_Silent_p.P172P|TP63_ENST00000320472.5_Silent_p.P172P|TP63_ENST00000392463.2_Silent_p.P78P|TP63_ENST00000392461.3_Silent_p.P78P|TP63_ENST00000437221.1_Silent_p.P78P|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.P78P|TP63_ENST00000354600.5_Silent_p.P78P|TP63_ENST00000449992.1_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	172					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCGACTACCCAGGCCCGCACA	0.652000										HNSCC(45;0.13)			31	83					0	0	0.008361	0	0
ATP11C	286410	broad.mit.edu	37	X	138871610	138871610	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:138871610G>T	ENST00000370557.1	-	13	2271	c.1244C>A	c.(1243-1245)aCt>aAt	p.T415N	ATP11C_ENST00000327569.3_Missense_Mutation_p.T418N|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.T418N|ATP11C_ENST00000361648.2_Missense_Mutation_p.T418N|ATP11C_ENST00000359686.2_Missense_Mutation_p.T418N			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	418					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCTGTTTTCAGTGAGTGTTCC	0.343000													25	79					5.45024e-15	2.49773e-14	0.003330	1	0
COLGALT2	23127	broad.mit.edu	37	1	183947644	183947644	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:183947644C>A	ENST00000361927.4	-	2	645	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D92Y	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		ACATTGTGATCAGTGGCTGCC	0.408000													38	129					3.76114e-14	1.71231e-13	0.004289	1	0
TNR	7143	broad.mit.edu	37	1	175334271	175334271	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:175334271G>A	ENST00000367674.1	-	12	3170	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	TNR_ENST00000263525.2_Missense_Mutation_p.S821F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	821	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCATCCAGGGAGACCTCCAT	0.537000													19	175					0	0	0.008871	0	0
SENP1	29843	broad.mit.edu	37	12	48457499	48457499	+	Silent	SNP	A	A	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr12:48457499A>G	ENST00000004980.5	-	13	1879	c.1401T>C	c.(1399-1401)aaT>aaC	p.N467N	SENP1_ENST00000549518.1_Silent_p.N467N|SENP1_ENST00000448372.1_Silent_p.N467N|SENP1_ENST00000549595.1_Silent_p.N467N|SENP1_ENST00000551330.1_Silent_p.N467N|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	467	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTACCTCATCATTGAGCCAAT	0.348000													28	76					0	0	0.006320	0	0
XPO1	7514	broad.mit.edu	37	2	61729132	61729132	+	Splice_Site	SNP	T	T	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:61729132T>A	ENST00000401558.2	-	6	1134	c.408_splice	c.e6+1	p.Q136_splice	XPO1_ENST00000406957.1_Splice_Site_p.Q136_splice|XPO1_ENST00000404992.2_Splice_Site_p.Q136_splice	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	136	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAAGCTTACCTGAACAAGGAT	0.269000			Mis		CLL								12	43					0	0	0.000978	0	0
CORO7	79585	broad.mit.edu	37	16	4408035	4408035	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr16:4408035C>A	ENST00000251166.4	-	25	2672	c.2527G>T	c.(2527-2529)Gcc>Tcc	p.A843S	CORO7_ENST00000537233.2_Missense_Mutation_p.A825S|CORO7_ENST00000539968.1_Missense_Mutation_p.A623S|CORO7_ENST00000574025.1_Missense_Mutation_p.A758S|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A843S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGCAGCCAGGCCTCGGCACTG	0.627000													32	84					5.90632e-09	2.50747e-08	0.002445	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766230	27766230	+	Silent	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:27766230C>G	ENST00000451261.2	+	5	1617	c.1218C>G	c.(1216-1218)ggC>ggG	p.G406G		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AAAACAATGGCGTGCTCAAGA	0.438000													31	66					0	0	0.008361	0	0
SORCS1	114815	broad.mit.edu	37	10	108923969	108923969	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr10:108923969C>A	ENST00000263054.6	-	1	323	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	SORCS1_ENST00000344440.6_Missense_Mutation_p.G106C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	106						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCTCCGGCCGGAGCGTGCA	0.701000													21	29					1.96292e-10	8.54303e-10	0.001523	1	0
APIP	51074	broad.mit.edu	37	11	34904943	34904943	+	Silent	SNP	T	T	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr11:34904943T>A	ENST00000395787.3	-	6	784	c.570A>T	c.(568-570)gtA>gtT	p.V190V	APIP_ENST00000278359.5_Silent_p.V207V|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	190					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GTCTGACCAGTACTGCACAGG	0.448000													99	212					0	0	0.003610	0	0
THBS2	7058	broad.mit.edu	37	6	169634978	169634978	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr6:169634978G>C	ENST00000366787.3	-	11	1751	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	501	TSP type-1 3.				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)		CGACCACGGGGACCAGGGGCT	0.677000													3	75					0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767693	77767693	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr8:77767693G>T	ENST00000521891.2	+	10	8984	c.8536G>T	c.(8536-8538)Gat>Tat	p.D2846Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2801Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2801Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2820Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2801						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)			AAAAACTCTGGATACTCTGCC	0.493000										HNSCC(33;0.089)			37	66					3.6622e-26	2.0113e-25	0.003755	1	0
NRG1	3084	broad.mit.edu	37	8	32611924	32611924	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr8:32611924C>T	ENST00000338921.4	+	9	1276	c.759C>T	c.(757-759)acC>acT	p.T253T	NRG1_ENST00000539990.1_Silent_p.T88T|NRG1_ENST00000405005.2_Silent_p.T245T|NRG1_ENST00000356819.4_Silent_p.T250T|NRG1_ENST00000287842.3_Silent_p.T242T|NRG1_ENST00000287840.5_Silent_p.T245T|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000523079.1_Silent_p.T242T|NRG1_ENST00000519301.1_Silent_p.T195T|NRG1_ENST00000287845.5_Silent_p.T216T|NRG1_ENST00000521670.1_Silent_p.T245T			Q02297	NRG1_HUMAN	neuregulin 1	245					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGTGCTGACCATAACCGGCA	0.522000													28	83					0	0	0.006320	0	0
PIK3R6	146850	broad.mit.edu	37	17	8736345	8736345	+	Silent	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr17:8736345G>T	ENST00000311434.9	-	9	902	c.663C>A	c.(661-663)acC>acA	p.T221T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	221					platelet activation	cytosol											AGTGCTCCAGGGTGCGGCGAG	0.692000													11	25					4.68919e-08	1.96662e-07	0.008291	1	0
SRRM2	23524	broad.mit.edu	37	16	2814911	2814911	+	Missense_Mutation	SNP	G	G	T	rs149555495	byFrequency	TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr16:2814911G>T	ENST00000301740.8	+	11	4931	c.4382G>T	c.(4381-4383)gGg>gTg	p.G1461V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1461	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCTGTCTGGGTCCTCTCCT	0.517000													68	149					7.93275e-45	4.81532e-44	0.003610	1	0
TLE4	7091	broad.mit.edu	37	9	82333887	82333887	+	Splice_Site	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr9:82333887G>T	ENST00000376520.4	+	16	2514		c.e16+1		TLE4_ENST00000376534.4_Splice_Site|TLE4_ENST00000376537.4_Splice_Site|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000376552.2_Splice_Site|TLE4_ENST00000265284.6_Splice_Site			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)											breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGACTGTCTGGTGAGTGAACA	0.517000													37	68					1.42033e-22	7.39e-22	0.004289	1	0
NIPA1	123606	broad.mit.edu	37	15	23048975	23048975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:23048975C>A	ENST00000437912.2	-	5	1916	c.619G>T	c.(619-621)Gag>Tag	p.E207*	NIPA1_ENST00000561183.1_Nonsense_Mutation_p.E207*|NIPA1_ENST00000337435.4_Nonsense_Mutation_p.E282*|NIPA1_ENST00000538684.1_Nonsense_Mutation_p.E112*			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	282					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGCTCCACTCCCGGAAGAGG	0.577000													15	21					4.14922e-12	1.84055e-11	0.004007	1	0
ATP1B1	481	broad.mit.edu	37	1	169100602	169100602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:169100602C>T	ENST00000367816.1	+	7	1250	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	ATP1B1_ENST00000367815.3_Nonsense_Mutation_p.Q241*|ATP1B1_ENST00000499679.3_Nonsense_Mutation_p.Q185*|ATP1B1_ENST00000367813.3_Nonsense_Mutation_p.Q233*			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	241					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TTTTCCTCTGCAGTATTATCC	0.443000													70	233					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47364056	47364056	+	Missense_Mutation	SNP	T	T	C	rs75537257		TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr18:47364056T>C	ENST00000285039.7	-	37	5268	c.4969A>G	c.(4969-4971)Atc>Gtc	p.I1657V	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.I772V|MYO5B_ENST00000592688.1_Missense_Mutation_p.I227V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1657	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCGGATGATAGCTTCCAGG	0.507000													47	84					0	0	0.003214	0	0
NACA	4666	broad.mit.edu	37	12	57115188	57115188	+	Silent	SNP	T	T	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr12:57115188T>A	ENST00000454682.1	-	3	407	c.126A>T	c.(124-126)ggA>ggT	p.G42G	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Silent_p.G42G|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGGGTAGGTCCAGGCTGCC	0.577000			T	BCL6	NHL								21	54					0	0	0.002299	0	0
SYDE2	84144	broad.mit.edu	37	1	85655930	85655930	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:85655930C>T	ENST00000341460.5	-	2	1300	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	417					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTTCAGTATGCCGCTCTGCTT	0.488000													4	114					0	0	0.000602	0	0
LILRA6	79168	broad.mit.edu	37	19	54745554	54745554	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:54745554C>T	ENST00000440558.2	-	4	604	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	LILRA6_ENST00000419410.2_Missense_Mutation_p.V186M|LILRA6_ENST00000396365.2_Missense_Mutation_p.V186M|LILRA6_ENST00000245621.5_Missense_Mutation_p.V186M|LILRA6_ENST00000391735.3_Missense_Mutation_p.V186M|LILRA6_ENST00000270464.5_Missense_Mutation_p.V186M|LILRB3_ENST00000407860.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGGTCACGGGGCCCACA	0.602000													32	91					0	0	0.002852	0	0
GDAP2	54834	broad.mit.edu	37	1	118454705	118454705	+	Splice_Site	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:118454705C>T	ENST00000369443.4	-	5	720		c.e5-1		GDAP2_ENST00000369442.3_Splice_Site	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2											kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGACTGCTCTCTGCAACAAAG	0.353000													12	39					0	0	0.001855	0	0
UTP14A	10813	broad.mit.edu	37	X	129055497	129055497	+	Silent	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:129055497C>A	ENST00000394422.3	+	11	1310	c.1282C>A	c.(1282-1284)Cga>Aga	p.R428R	UTP14A_ENST00000498179.1_3'UTR|UTP14A_ENST00000425117.2_Silent_p.R376R|UTP14A_ENST00000371042.3_Silent_p.R260R|UTP14A_ENST00000371051.5_Silent_p.R374R|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	428					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGAGGAAAGGCGATCCCTTAG	0.463000													34	82					9.65021e-13	4.30835e-12	0.002096	1	0
COL18A1	80781	broad.mit.edu	37	21	46917542	46917542	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr21:46917542G>A	ENST00000359759.4	+	31	3916	c.3895G>A	c.(3895-3897)Gcc>Acc	p.A1299T	COL18A1_ENST00000400337.2_Missense_Mutation_p.A884T|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000355480.5_Missense_Mutation_p.A1064T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1299	Triple-helical region 7 (COL7).			A -> P (in Ref. 5; AAA51864).	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACCCAAGGGCGCCAAAGGAGA	0.652000													3	6					0	0	0.000248	0	0
ESYT3	83850	broad.mit.edu	37	3	138191514	138191514	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr3:138191514A>C	ENST00000389567.4	+	18	2236	c.2050A>C	c.(2050-2052)Agt>Cgt	p.S684R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	684						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGAGAAGAAGAGTCCAGCCAC	0.592000													30	110					0	0	0.008740	0	0
TLE4	7091	broad.mit.edu	37	9	82333886	82333886	+	Splice_Site	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr9:82333886G>T	ENST00000376520.4	+	16	2514	c.1686_splice	c.e16+1	p.L562_splice	TLE4_ENST00000376534.4_Splice_Site_p.L167_splice|TLE4_ENST00000376537.4_Splice_Site_p.L562_splice|TLE4_ENST00000376544.3_Splice_Site_p.L461_splice|TLE4_ENST00000376552.2_Splice_Site_p.L530_splice|TLE4_ENST00000265284.6_Splice_Site_p.L505_splice			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCGACTGTCTGGTGAGTGAAC	0.512000													38	68					9.45814e-24	5.03464e-23	0.004878	1	0
SH2D4A	63898	broad.mit.edu	37	8	19221702	19221702	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr8:19221702C>A	ENST00000265807.3	+	7	1237	c.826C>A	c.(826-828)Ccc>Acc	p.P276T	SH2D4A_ENST00000518040.1_Missense_Mutation_p.P231T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.P276T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	276						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GCTGCAAAGCCCCTTGCGTGT	0.527000													30	90					9.04072e-19	4.4687e-18	0.003271	1	0
ADAM12	8038	broad.mit.edu	37	10	127705850	127705850	+	Nonstop_Mutation	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr10:127705850A>T	ENST00000368679.4	-	23	3037	c.2728T>A	c.(2728-2730)Tga>Aga	p.*910R		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	0					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCGGCTTCTCACTTAATATAG	0.403000													10	15					0	0	0.000978	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													3	89					0	0	0.000248	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767692	77767692	+	Silent	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr8:77767692G>T	ENST00000521891.2	+	10	8983	c.8535G>T	c.(8533-8535)ctG>ctT	p.L2845L	ZFHX4_ENST00000050961.6_Silent_p.L2800L|ZFHX4_ENST00000455469.2_Silent_p.L2800L|ZFHX4_ENST00000518282.1_Silent_p.L2819L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2800						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)			CAAAAACTCTGGATACTCTGC	0.493000										HNSCC(33;0.089)			35	66					9.78485e-24	5.16879e-23	0.002836	1	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													3	105					0	0	0.004672	0	0
GIN1	54826	broad.mit.edu	37	5	102432325	102432325	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr5:102432325C>T	ENST00000399004.2	-	7	1308	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	405					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AGTGTTGTCTCTCAGGACAGC	0.418000													99	240					0	0	0.003610	0	0
OR52N2	390077	broad.mit.edu	37	11	5842289	5842289	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr11:5842289A>G	ENST00000317037.2	+	1	746	c.724A>G	c.(724-726)Acc>Gcc	p.T242A	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTTCAGCACCTGCACATC	0.418000													41	116					0	0	0.003610	0	0
ZNF543	125919	broad.mit.edu	37	19	57835140	57835140	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:57835140G>T	ENST00000321545.4	+	2	454	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTATCAGGAGGTGATGCTGGA	0.532000													55	151					1.10885e-35	6.55832e-35	0.003610	1	0
MFSD3	113655	broad.mit.edu	37	8	145735371	145735371	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr8:145735371G>C	ENST00000301327.4	+	1	915	c.655G>C	c.(655-657)Gca>Cca	p.A219P		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	219	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGTGTGGACGGCAGGCTTTGT	0.687000											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	19					0	0	0.006214	0	0
ADRBK2	157	broad.mit.edu	37	22	26114346	26114346	+	Silent	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr22:26114346C>A	ENST00000324198.5	+	19	1981	c.1789C>A	c.(1789-1791)Cgg>Agg	p.R597R		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	597	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GGGAGAGTCCCGGGTAAGTCT	0.458000													5	188					0.000442599	0.0017911	0.006214	1	0
SLC47A2	146802	broad.mit.edu	37	17	19618045	19618045	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr17:19618045A>T	ENST00000350657.5	-	3	457	c.283T>A	c.(283-285)Ttg>Atg	p.L95M	SLC47A2_ENST00000325411.5_Missense_Mutation_p.L95M|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	95						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TGAGACATCAAGGTGTCACAT	0.582000													8	386					0	0	0.004482	0	0
XPO1	7514	broad.mit.edu	37	2	61706009	61706009	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:61706009C>A	ENST00000401558.2	-	25	3889	c.3162G>T	c.(3160-3162)atG>atT	p.M1054I	XPO1_ENST00000406957.1_Missense_Mutation_p.M1054I|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.M1054I|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	1054					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CAGGGACAGACATTTGACGTT	0.393000			Mis		CLL								25	89					7.92952e-12	3.49505e-11	0.003954	1	0
MXRA5	25878	broad.mit.edu	37	X	3240968	3240968	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:3240968G>C	ENST00000217939.6	-	5	2912	c.2758C>G	c.(2758-2760)Cca>Gca	p.P920A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	920						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAGGAGATGGTTCATAAGGC	0.493000													61	135					0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164792419	164792419	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr3:164792419C>T	ENST00000264382.3	-	3	217	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	52	Ser/Thr-rich.				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)	TGTAGTCACACGAGTAGTAGC	0.338000										HNSCC(35;0.089)			25	109					0	0	0.007291	0	0
CLCN5	1184	broad.mit.edu	37	X	49840596	49840596	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:49840596G>A	ENST00000376088.3	+	7	1203	c.562G>A	c.(562-564)Gag>Aag	p.E188K	CLCN5_ENST00000376108.3_Missense_Mutation_p.E118K|CLCN5_ENST00000376091.3_Missense_Mutation_p.E188K|CLCN5_ENST00000307367.2_Missense_Mutation_p.E118K	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	118					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CAAATGTCCAGAGTGGAATAG	0.388000													31	75					0	0	0.008361	0	0
SETBP1	26040	broad.mit.edu	37	18	42531492	42531492	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr18:42531492G>T	ENST00000282030.5	+	4	2483	c.2187G>T	c.(2185-2187)agG>agT	p.R729S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	729						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)		AGCGGGGCAGGAAGCCAAGAG	0.572000									Schinzel-Giedion syndrome				20	53					1.96292e-10	8.54303e-10	0.001523	1	0
NEB	4703	broad.mit.edu	37	2	152432670	152432670	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:152432670T>C	ENST00000427231.2	-	106	17105	c.16903A>G	c.(16903-16905)Agt>Ggt	p.S5635G	NEB_ENST00000603639.1_Missense_Mutation_p.S5635G|NEB_ENST00000172853.10_Missense_Mutation_p.S3934G|NEB_ENST00000604864.1_Missense_Mutation_p.S5635G|NEB_ENST00000409198.1_Missense_Mutation_p.S3934G|NEB_ENST00000397345.3_Missense_Mutation_p.S5635G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5648					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCACAATACTAATATTTTCA	0.318000													12	33					0	0	0.001368	0	0
KDM4C	23081	broad.mit.edu	37	9	6986603	6986603	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr9:6986603C>T	ENST00000381309.3	+	11	2179	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	KDM4C_ENST00000428870.2_Silent_p.G225G|KDM4C_ENST00000535193.1_Silent_p.G560G|KDM4C_ENST00000536108.1_Silent_p.G357G|KDM4C_ENST00000543771.1_Silent_p.G538G|KDM4C_ENST00000381306.3_Silent_p.G538G|KDM4C_ENST00000442236.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	538					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATGGGAATGGCCTTGAACCTG	0.468000													27	49					0	0	0.005443	0	0
EFTUD1	79631	broad.mit.edu	37	15	82533632	82533632	+	Silent	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:82533632A>T	ENST00000268206.7	-	5	525	c.357T>A	c.(355-357)gcT>gcA	p.A119A	EFTUD1_ENST00000359445.3_Silent_p.A68A	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	119					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCCTTCCACAGCATCTACCA	0.443000													31	74					0	0	0.002836	0	0
NPAP1	23742	broad.mit.edu	37	15	24923547	24923547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:24923547G>T	ENST00000329468.2	+	1	3007	c.2533G>T	c.(2533-2535)Gag>Tag	p.E845*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCCAGGAAGGAGGAGTACAT	0.498000													59	124					1.73933e-33	1.01144e-32	0.003610	1	0
UNC13C	440279	broad.mit.edu	37	15	54307911	54307911	+	Silent	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:54307911C>G	ENST00000545554.1	+	1	2811	c.2811C>G	c.(2809-2811)ccC>ccG	p.P937P	UNC13C_ENST00000537900.1_Silent_p.P937P|UNC13C_ENST00000260323.11_Silent_p.P937P			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	937					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGTTAGAACCCTTAAATGAAA	0.403000													30	53					0	0	0.006320	0	0
XPR1	9213	broad.mit.edu	37	1	180775265	180775265	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:180775265G>A	ENST00000367590.4	+	5	713	c.515G>A	c.(514-516)gGa>gAa	p.G172E	XPR1_ENST00000367589.3_Missense_Mutation_p.G172E	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	172	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACATCTCGTGGAGCAGATTGG	0.388000													32	112					0	0	0.001786	0	0
FAM199X	139231	broad.mit.edu	37	X	103411604	103411604	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:103411604C>T	ENST00000493442.1	+	1	304	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	46								p.F46F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCAGCGACTTCGGCTGCCAGC	0.657000													12	46					0	0	0.004990	0	0
MIR542	664617	broad.mit.edu	37	X	133675416	133675416	+	RNA	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:133675416A>T	ENST00000385050.1	-	0	51					NR_030399.1																						ATCTGTCACAAGTGCACACTG	0.438000													95	240					0	0	0.003610	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132914566	132914566	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:132914566C>T	ENST00000409867.1	-	3	736	c.487G>A	c.(487-489)Gac>Aac	p.D163N	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						ACTTCGATGTCTGCACCACAG	0.328000													5	12					0	0	0.001168	0	0
MIR542	664617	broad.mit.edu	37	X	133675417	133675417	+	RNA	SNP	G	G	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:133675417G>C	ENST00000385050.1	-	0	50					NR_030399.1																						TCTGTCACAAGTGCACACTGG	0.438000													94	239					0	0	0.003610	0	0
FAM47B	170062	broad.mit.edu	37	X	34961951	34961951	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:34961951C>A	ENST00000329357.5	+	1	1039	c.1003C>A	c.(1003-1005)Cct>Act	p.P335T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	335										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGCCTGGAACCTCCCAACAC	0.592000													39	89					6.5261e-18	3.15809e-17	0.008740	1	0
TRBV19	28568	broad.mit.edu	37	7	142326586	142326586	+	RNA	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:142326586C>G	ENST00000390393.3	+	0	224																											CAACCAGGTGCTCTGCTGTGT	0.537000													47	81					0	0	0.003610	0	0
SYP	6855	broad.mit.edu	37	X	49047923	49047923	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:49047923C>T	ENST00000263233.4	-	6	985	c.913G>A	c.(913-915)Gca>Aca	p.A305T	SYP_ENST00000479808.1_Missense_Mutation_p.A305T|SYP_ENST00000538567.1_Missense_Mutation_p.A187T	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	305	Repeats, Gly-rich.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GAGGTGGGTGCACCCTGCGGG	0.647000													12	38					0	0	0.001855	0	0
RELN	5649	broad.mit.edu	37	7	103202009	103202009	+	Silent	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:103202009G>T	ENST00000424685.2	-	36	5658	c.5499C>A	c.(5497-5499)atC>atA	p.I1833I	RELN_ENST00000343529.5_Silent_p.I1833I|RELN_ENST00000428762.1_Silent_p.I1833I			P78509	RELN_HUMAN	reelin	1833					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)		TTCCAGATTTGATGGTTTCAC	0.408000													35	96					1.60099e-16	7.58823e-16	0.004878	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													8	196					0	0	0.004482	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23358808	23358808	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:23358808C>G	ENST00000258729.3	-	11	1625	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	423	KH 3.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GCTGGCCCTGCTTGCCGATGA	0.458000													43	117					0	0	0.007835	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673464	22673464	+	RNA	SNP	G	G	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr22:22673464G>C	ENST00000390289.2	+	0	262				LL22NC03-80A10.6_ENST00000426066.1_RNA																							GTTCCCAGCCGCTTCTCTGGA	0.542000													71	184					0	0	0.003610	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49035674	49035674	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:49035674G>A	ENST00000376317.3	-	5	584	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.R151W|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.R96W|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.R83W	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	164	PET.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCCCGCTTCCGCTGCTGGCTA	0.612000													13	34					0	0	0.001855	0	0
HECW1	23072	broad.mit.edu	37	7	43360233	43360233	+	Splice_Site	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:43360233G>A	ENST00000395891.1	+	5	957		c.e5-1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						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						TGGGAATATAGATGAGGTCTT	0.428000													24	59					0	0	0.003330	0	0
ARID2	196528	broad.mit.edu	37	12	46230571	46230571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr12:46230571C>T	ENST00000334344.6	+	8	992	c.820C>T	c.(820-822)Cga>Tga	p.R274*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.R125*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	274					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATCCACCTCGAAAGCTGGG	0.363000			"""N, S, F"""		hepatocellular carcinoma								30	43					0	0	0.002445	0	0
SLC25A23	79085	broad.mit.edu	37	19	6457519	6457519	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:6457519C>A	ENST00000301454.4	-	3	472	c.366G>T	c.(364-366)ttG>ttT	p.L122F	SLC25A23_ENST00000334510.5_Missense_Mutation_p.L122F	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	122	EF-hand 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTCACCTGTGCAAAATTTTCT	0.562000													25	36					2.70662e-09	1.15616e-08	0.001786	1	0
ESYT3	83850	broad.mit.edu	37	3	138191513	138191513	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr3:138191513G>T	ENST00000389567.4	+	18	2235	c.2049G>T	c.(2047-2049)aaG>aaT	p.K683N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	683						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGAGAAGAAGAGTCCAGCCA	0.592000													30	115					7.53189e-24	4.04036e-23	0.007835	1	0
KEAP1	9817	broad.mit.edu	37	19	10610235	10610235	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:10610235C>G	ENST00000171111.5	-	2	1022	c.475G>C	c.(475-477)Gct>Cct	p.A159P	KEAP1_ENST00000393623.2_Missense_Mutation_p.A159P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TACATGACAGCACCGTTCATG	0.582000													37	51					0	0	0.006999	0	0
ASAH2	56624	broad.mit.edu	37	10	51978297	51978297	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr10:51978297C>T	ENST00000395526.3	-	7	986	c.987G>A	c.(985-987)gaG>gaA	p.E329E	ASAH2_ENST00000447815.1_Silent_p.E329E|ASAH2_ENST00000443575.1_Silent_p.E171E|ASAH2_ENST00000329428.6_Silent_p.E310E	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	329					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						CTTTGTTCTTCTCTTGCTCAA	0.423000													35	106					0	0	0.003610	0	0
EYS	346007	broad.mit.edu	37	6	66115164	66115164	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr6:66115164C>G	ENST00000503581.1	-	6	1496	c.959G>C	c.(958-960)tGc>tCc	p.C320S	EYS_ENST00000370621.3_Missense_Mutation_p.C320S|EYS_ENST00000393380.2_Missense_Mutation_p.C320S|EYS_ENST00000370618.3_Missense_Mutation_p.C320S|EYS_ENST00000370616.2_Missense_Mutation_p.C320S|EYS_ENST00000342421.5_Missense_Mutation_p.C320S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	320					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTTTTGGGCATTCATAAGT	0.383000													58	144					0	0	0.003610	0	0
OR51S1	119692	broad.mit.edu	37	11	4870118	4870118	+	Silent	SNP	T	T	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr11:4870118T>A	ENST00000322101.2	-	1	396	c.321A>T	c.(319-321)ctA>ctT	p.L107L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACCATCTGTAGAAGGCAGG	0.542000													62	112					0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	50779780	50779780	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:50779780C>A	ENST00000404971.1	-	10	3163	c.1824G>T	c.(1822-1824)aaG>aaT	p.K608N	NRXN1_ENST00000401669.2_Missense_Mutation_p.K568N|NRXN1_ENST00000406859.3_Missense_Mutation_p.K568N|NRXN1_ENST00000402717.3_Missense_Mutation_p.K560N|NRXN1_ENST00000406316.2_Missense_Mutation_p.K568N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K560N|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	568	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATTCACTTTCTTCAACAGGG	0.443000													58	169					1.08141e-31	6.18457e-31	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179594055	179594055	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:179594055T>A	ENST00000589042.1	-	64	19052	c.18828A>T	c.(18826-18828)gaA>gaT	p.E6276D	TTN_ENST00000591111.1_Missense_Mutation_p.E5959D|TTN_ENST00000342992.6_Missense_Mutation_p.E5032D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5959	Ig-like 44.						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)			AGCTGCCGCCTTCATTGGATA	0.413000													73	156					0	0	0.003610	0	0
CST4	1472	broad.mit.edu	37	20	23666557	23666557	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr20:23666557C>G	ENST00000217423.3	-	3	470	c.400G>C	c.(400-402)Gtg>Ctg	p.V134L		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	134						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CTGGAATTCACCAGGGACATT	0.557000													23	66					0	0	0.006320	0	0
OGT	8473	broad.mit.edu	37	X	70782790	70782790	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:70782790C>A	ENST00000373719.3	+	16	2288	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K	OGT_ENST00000373701.3_Missense_Mutation_p.Q681K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	691					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGTTGCTGAGCAGTATTCCGA	0.438000													48	132					7.05377e-20	3.53711e-19	0.003610	1	0
SHPK	23729	broad.mit.edu	37	17	3539511	3539511	+	Translation_Start_Site	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr17:3539511C>T	ENST00000225519.3	-	1	105	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	1					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCCGCGCAGCCATTATCTCCC	0.711000													17	51					0	0	0.006122	0	0
FAM135B	51059	broad.mit.edu	37	8	139164870	139164870	+	Silent	SNP	A	A	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr8:139164870A>G	ENST00000395297.1	-	13	2018	c.1848T>C	c.(1846-1848)agT>agC	p.S616S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	616										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCCTAGAGTACTTAATTCAT	0.463000										HNSCC(54;0.14)			59	154					0	0	0.003610	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419539	80419539	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr5:80419539G>T	ENST00000265080.4	+	16	2616	c.2549G>T	c.(2548-2550)tGc>tTc	p.C850F		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	850					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTTTCACCTTGCAGATCCCCC	0.517000													29	81					1.88708e-17	9.06849e-17	0.008361	1	0
ANKIB1	54467	broad.mit.edu	37	7	91980320	91980320	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:91980320A>T	ENST00000265742.3	+	8	1518	c.1142A>T	c.(1141-1143)tAt>tTt	p.Y381F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	381							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCCCTGCATATGATTGCTTC	0.348000													13	35					0	0	0.001855	0	0
SPTBN2	6712	broad.mit.edu	37	11	66455642	66455642	+	Silent	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr11:66455642G>A	ENST00000533211.1	-	32	6703	c.6372C>T	c.(6370-6372)gaC>gaT	p.D2124D	SPTBN2_ENST00000529997.1_Silent_p.D2124D|SPTBN2_ENST00000309996.2_Silent_p.D2124D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2124					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCTCTCACCCGTCCCAGGTGG	0.652000													15	47					0	0	0.002450	0	0
LILRA5	353514	broad.mit.edu	37	19	54823398	54823398	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:54823398G>T	ENST00000301219.3	-	4	264	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	LILRA5_ENST00000446712.3_Missense_Mutation_p.L37I|LILRA5_ENST00000432233.3_Missense_Mutation_p.L49I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.L37I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	49					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGCCCAGAGGGTGGCTTTG	0.622000													36	96					1.36161e-19	6.77868e-19	0.004289	1	0
ZNF721	170960	broad.mit.edu	37	4	466365	466365	+	Splice_Site	SNP	T	T	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr4:466365T>C	ENST00000511833.2	-	2	226	c.34_splice	c.e2+1	p.L11_splice	ZNF721_ENST00000338977.5_Intron|ZNF721_ENST00000507078.1_5'UTR|ZNF721_ENST00000506646.1_Splice_Site_p.L43_splice|ABCA11P_ENST00000451020.2_RNA	NM_133474.3	NP_597731.2			zinc finger protein 721									p.L11L(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TATCCTCACCTAGGGAGACCA	0.368000													5	161					0	0	0.001168	0	0
TLDC1	57707	broad.mit.edu	37	16	84520279	84520279	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr16:84520279C>A	ENST00000343629.6	-	5	1098	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	TLDC1_ENST00000535580.1_Missense_Mutation_p.G279W	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		GAGGCAAACCCACCGAACACA	0.567000													23	93					1.85244e-09	7.96205e-09	0.003330	1	0
ERBB4	2066	broad.mit.edu	37	2	212589824	212589824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr2:212589824C>A	ENST00000342788.4	-	6	1028	c.718G>T	c.(718-720)Gga>Tga	p.G240*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.G240*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.G240*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	240	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCTTAGGTCCTGAGCAGCCT	0.478000										TSP Lung(8;0.080)			55	95					3.07002e-29	1.71327e-28	0.003610	1	0
SOX9	6662	broad.mit.edu	37	17	70117604	70117604	+	Silent	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr17:70117604C>G	ENST00000245479.2	+	1	444	c.72C>G	c.(70-72)ccC>ccG	p.P24P		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	24					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)			CCCCCAGCCCCACCATGTCCG	0.711000													10	44					0	0	0.000978	0	0
NR0B2	8431	broad.mit.edu	37	1	27238432	27238432	+	Silent	SNP	G	G	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:27238432G>A	ENST00000254227.3	-	2	703	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	226	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGGTCGGAATGGACTTGAGGG	0.602000													73	181					0	0	0.003610	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722793	16722793	+	RNA	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr17:16722793C>T	ENST00000417510.1	-	0	1020																											TAGTGAAGAACCGTTCCTCTG	0.522000													55	147					0	0	0.003610	0	0
ESYT3	83850	broad.mit.edu	37	3	138191512	138191512	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr3:138191512A>G	ENST00000389567.4	+	18	2234	c.2048A>G	c.(2047-2049)aAg>aGg	p.K683R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	683						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGGAGAAGAAGAGTCCAGCC	0.592000													29	114					0	0	0.007835	0	0
POMT1	10585	broad.mit.edu	37	9	134385140	134385140	+	Silent	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr9:134385140C>T	ENST00000423007.1	+	7	992	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	POMT1_ENST00000404875.2_Silent_p.L67L|POMT1_ENST00000372228.3_Silent_p.L184L|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.L154L|POMT1_ENST00000341012.7_Silent_p.L130L|POMT1_ENST00000419118.2_Silent_p.L32L|POMT1_ENST00000402686.3_Silent_p.L184L	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	184					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CCCTTTTTCTCTGAGCTGGTG	0.483000													61	148					0	0	0.003610	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	95					0	0	0.003080	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718322	142718322	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:142718322G>T	ENST00000381779.4	-	2	828	c.603C>A	c.(601-603)caC>caA	p.H201Q	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H201Q|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H201Q	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	201						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CACGGCCAATGTGTTCCAGAA	0.438000													51	117					6.08268e-21	3.07242e-20	0.003610	1	0
KLHL14	57565	broad.mit.edu	37	18	30257294	30257294	+	Splice_Site	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr18:30257294C>G	ENST00000359358.4	-	8	2027		c.e8-1			NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGGGAGAAACCTAAGTGACAG	0.423000													17	47					0	0	0.004007	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44789292	44789292	+	Silent	SNP	T	T	C			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:44789292T>C	ENST00000260327.4	+	7	1401	c.838T>C	c.(838-840)Ttg>Ctg	p.L280L	CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000558966.1_Silent_p.L280L|CTDSPL2_ENST00000558373.1_Silent_p.L208L|CTDSPL2_ENST00000396780.1_Silent_p.L208L	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	280							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TGCTCTTCCGTTGAAAACAAG	0.343000													24	73					0	0	0.006320	0	0
OR6N2	81442	broad.mit.edu	37	1	158746799	158746799	+	Silent	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:158746799G>T	ENST00000339258.1	-	1	626	c.627C>A	c.(625-627)atC>atA	p.I209I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGAAGAAAGTGATAAGAATTA	0.408000													16	74					4.75885e-15	2.19542e-14	0.004990	1	0
ITIH6	347365	broad.mit.edu	37	X	54783622	54783622	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chrX:54783622G>T	ENST00000218436.6	-	8	2914	c.2885C>A	c.(2884-2886)cCa>cAa	p.P962Q		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	962	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGGAACTCCTGGCCTAGATGG	0.577000													44	68					1.31131e-34	7.69003e-34	0.003214	1	0
PPP6R1	22870	broad.mit.edu	37	19	55753857	55753857	+	Splice_Site	SNP	C	C	G			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:55753857C>G	ENST00000412770.2	-	6	1185		c.e6-1		PPP6R1_ENST00000587283.1_Splice_Site	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1						regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						TGGAATGTTGCTGGAACGGGG	0.622000													32	72					0	0	0.001786	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702244	27702244	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr10:27702244C>A	ENST00000438700.3	-	1	1053	c.936G>T	c.(934-936)atG>atT	p.M312I		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	312					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTAACTGGCCCATTCCTAGGC	0.602000													51	141					2.74695e-27	1.52071e-26	0.003610	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752645	62752645	+	RNA	SNP	A	A	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:62752645A>T	ENST00000331425.6	-	0	790					NR_003952.1																						GCTTGGCCACATTCTTCACAT	0.443000													19	52					0	0	0.003330	0	0
C3orf20	84077	broad.mit.edu	37	3	14755649	14755649	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr3:14755649C>A	ENST00000253697.3	+	8	1748	c.1296C>A	c.(1294-1296)caC>caA	p.H432Q	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.H310Q|C3orf20_ENST00000412910.1_Missense_Mutation_p.H310Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	432						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTGTGTTCACTACAACCTAA	0.517000													27	53					3.6726e-16	1.72887e-15	0.003954	1	0
LZTR1	8216	broad.mit.edu	37	22	21336817	21336817	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr22:21336817C>T	ENST00000215739.8	+	1	516	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	LZTR1_ENST00000479606.1_Intron|LZTR1_ENST00000389355.3_Missense_Mutation_p.R53C	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	53					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AACAGTGCATCGCTGGCGGCG	0.662000													14	32					0	0	0.003163	0	0
CROCCP2	84809	broad.mit.edu	37	1	16944979	16944981	+	RNA	DEL	AAG	AAG	-	rs67064896		TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:16944979_16944981delAAG	ENST00000412962.1	-	0	2538_2540																											GGATGGATAAAAGAagagcctct	0.369													2	4	---	---	---	---					
RPL5	6125	broad.mit.edu	37	1	93306104	93306126	+	Splice_Site	DEL	TCAGATGGAGGAGATGTATAAGA	TCAGATGGAGGAGATGTATAAGA	-			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr1:93306104_93306126delTCAGATGGAGGAGATGTATAAGA	ENST00000370321.3	+	7	795_814	c.705_splice	c.e7-1	p.I235_splice		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	235					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	p.E238*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTCCTTTGTTTCAGATGGAGGAGATGTATAAGAAAGCTCATGC	0.363													11	162	---	---	---	---					
BBS7	55212	broad.mit.edu	37	4	122749557	122749557	+	Splice_Site	DEL	T	T	-			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr4:122749557delT	ENST00000264499.4	-	17	2073	c.1890_splice	c.e17+1	p.K630_splice	BBS7_ENST00000506636.1_Splice_Site_p.K630_splice	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	630					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATGTACTTACTTTTAAAGCAT	0.323									Bardet-Biedl syndrome				35	102	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(577-582)ataaaafs	p.IK193fs	PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000367582.3_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	193							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569													8	113	---	---	---	---					
C7orf25	79020	broad.mit.edu	37	7	42950377	42950377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr7:42950377delT	ENST00000350427.4	-	2	398	c.123delA	c.(121-123)aafs	p.K41fs	C7orf25_ENST00000447342.1_Frame_Shift_Del_p.K41fs|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.K99fs|C7orf25_ENST00000438029.1_Frame_Shift_Del_p.K41fs			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	41										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTGCCTTCAATTTGCTGCACA	0.423													108	253	---	---	---	---					
TBC1D2	55357	broad.mit.edu	37	9	100965613	100965614	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr9:100965613_100965614delAT	ENST00000375066.5	-	10	2318_2319	c.2227_2228delAT	c.(2227-2229)cfs	p.I743fs	TBC1D2_ENST00000375064.1_Frame_Shift_Del_p.I743fs|TBC1D2_ENST00000375063.1_Frame_Shift_Del_p.I283fs|TBC1D2_ENST00000342112.5_Frame_Shift_Del_p.I525fs	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	743	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGCGGGCATGATGGTCTCCACA	0.614													78	205	---	---	---	---					
TLR4	7099	broad.mit.edu	37	9	120476595	120476595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr9:120476595delG	ENST00000355622.6	+	3	2290	c.2189delG	c.(2188-2190)acfs	p.S730fs	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Frame_Shift_Del_p.S690fs	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	730	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						TTCCATAAAAGCCGAAAGGTG	0.493													52	139	---	---	---	---					
SLC22A12	116085	broad.mit.edu	37	11	64360272	64360273	+	Translation_Start_Site	INS	-	-	A			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr11:64360272_64360273insA	ENST00000473690.1	+	0	642_643				SLC22A12_ENST00000377572.1_Frame_Shift_Ins_p.C142fs|SLC22A12_ENST00000377574.1_Frame_Shift_Ins_p.C142fs|SLC22A12_ENST00000377567.2_Frame_Shift_Ins_p.C142fs|SLC22A12_ENST00000336464.7_Frame_Shift_Ins_p.C142fs	NM_153378.1	NP_700357.1	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GTGTGACTCTCATGCTCTGAAG	0.634													85	224	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33261122	33261123	+	In_Frame_Ins	INS	-	-	CAA			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:33261122_33261123insCAA	ENST00000334528.9	-	4	2109_2110	c.2110_2111insTTG	c.(2110-2112)acc>TTGacc	p.703_704insL	FMN1_ENST00000561249.1_In_Frame_Ins_p.828_829insL|FMN1_ENST00000559047.1_In_Frame_Ins_p.926_927insL	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	926	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAgtgggggtgggggtgggggt	0.673													2	4	---	---	---	---					
SORD2P	653381	broad.mit.edu	37	15	45123910	45123910	+	RNA	DEL	A	A	-			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr15:45123910delA	ENST00000561384.2	-	0	726																											ATCTGAAGGTAAAAAAAAAAA	0.418													5	5	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													7	244	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-91-6849-01A-11D-1945-08	TCGA-91-6849-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35f07c4-bc27-4f85-bc74-acb00e8445bd	21fa02d1-a56c-4fe0-80eb-780083e6a889	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													5	5	---	---	---	---