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
CRISP1	167	broad.mit.edu	37	6	49806228	49806228	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:49806228G>A	ENST00000335847.4	-	7	645	c.544C>T	c.(544-546)Cct>Tct	p.P182S	CRISP1_ENST00000355791.2_Missense_Mutation_p.P182S|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.P182S|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000536021.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	182					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TTTGTTTCAGGATCATTTCCC	0.343000													23	39					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86241388	86241388	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:86241388G>A	ENST00000370571.2	-	53	4709	c.4343C>T	c.(4342-4344)cCc>cTc	p.P1448L	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1448L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1448	Collagen-like 17.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCACCTCTGGGTCCCTAAAA	0.328000													19	58					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367156	367156	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:367156C>T	ENST00000240499.7	+	4	1079	c.930C>T	c.(928-930)ccC>ccT	p.P310P	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	310					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P310P(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GAGAGAAACCCTACAAATGTG	0.388000													26	80					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246755189	246755189	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:246755189C>T	ENST00000366513.4	+	2	594	c.325C>T	c.(325-327)Cct>Tct	p.P109S	CNST_ENST00000366512.3_Missense_Mutation_p.P109S|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	109					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAAAAAAATTCCTGGAAAAAG	0.393000													18	31					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776772	5776772	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:5776772G>A	ENST00000317254.3	+	1	850	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCGCTTTGGGGAACACATAAT	0.463000													53	101					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202569573	202569573	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:202569573G>A	ENST00000367267.1	-	7	1023	c.831C>T	c.(829-831)tcC>tcT	p.S277S	SYT2_ENST00000367268.4_Silent_p.S277S	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	277	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CATAGCGCAGGGAGGTGCAGA	0.597000											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621163	179621163	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179621163G>A	ENST00000589042.1	-	46	11264	c.11040C>T	c.(11038-11040)ctC>ctT	p.L3680L	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Silent_p.L3509L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3365	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAAAACACAGAGGAATTGAG	0.433000													19	44					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144906172	144906172	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:144906172G>A	ENST00000529945.1	-	15	3389	c.2950C>T	c.(2950-2952)Cct>Tct	p.P984S	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P984S|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.P608S|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P887S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P958S|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.P821S|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.P821S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P821S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P821S|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P958S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	821					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTCTTCAGGATCAACCAGT	0.403000			T	PDGFRB	MPD								27	61					0	0	1	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453536	143453536	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:143453536C>T	ENST00000470691.2	-	1	1253	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					CGGTAATTTTCCTCCACTGTT	0.368000													28	154					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884601	48884601	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:48884601G>A	ENST00000314014.2	+	6	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.E59K	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	59										endometrium(1)|large_intestine(4)	5						TCAGCTGCAGGAAGATGCTCG	0.448000													51	128					0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71419532	71419532	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:71419532T>G	ENST00000302628.4	+	10	757	c.680T>G	c.(679-681)cTg>cGg	p.L227R	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	227	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TTGAAGGATCTGTACGAGAAA	0.577000													9	35					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12023923	12023923	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:12023923G>A	ENST00000396505.2	-	3	513	c.275C>T	c.(274-276)cCc>cTc	p.P92L	DKK3_ENST00000326932.4_Missense_Mutation_p.P92L|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.P92L|DKK3_ENST00000525493.1_Missense_Mutation_p.P92L	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	92					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTGATAGCTGGGAGGTAAGTT	0.418000													22	55					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512846	70512846	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:70512846A>T	ENST00000503640.1	-	1	572	c.517T>A	c.(517-519)Ttt>Att	p.F173I	UGT2A1_ENST00000512704.1_Missense_Mutation_p.F173I|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F173I|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F173I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	173					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCTGGAGAAAACCTCAAGGAG	0.418000													31	59					0	0	1	0	0
GGPS1	9453	broad.mit.edu	37	1	235505883	235505883	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:235505883C>T	ENST00000282841.5	+	4	931	c.699C>T	c.(697-699)atC>atT	p.I233I	GGPS1_ENST00000476121.1_Silent_p.I233I|GGPS1_ENST00000488594.1_Silent_p.I233I|GGPS1_ENST00000391855.2_Silent_p.I179I|GGPS1_ENST00000358966.2_Silent_p.I233I			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	233					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			TGCAGAATATCTTGCGCCAGA	0.368000													30	60					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916868	149916868	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:149916868T>G	ENST00000369135.3	-	12	1714	c.1420A>C	c.(1420-1422)Agc>Cgc	p.S474R		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	474					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGAACTGCTGCCAACTGAC	0.607000													39	102					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555032	44555032	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:44555032C>T	ENST00000330682.2	-	1	1417	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	394	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCAATGAATCCTCCATAATT	0.582000													18	636					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117576512	117576512	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:117576512C>T	ENST00000256652.4	+	9	2913	c.2855C>T	c.(2854-2856)tCg>tTg	p.S952L	CD101_ENST00000369470.1_Missense_Mutation_p.S952L|CD101_ENST00000467588.1_3'UTR|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	952					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTGCTCCTCGGCCCCTTTA	0.483000													41	108					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750118	142750118	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:142750118C>T	ENST00000418316.1	+	1	702	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGCGGATCCCCTCTGCCAGCA	0.537000													76	163					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259241	89259241	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:89259241G>A	ENST00000336596.2	+	3	610	c.385G>A	c.(385-387)Gat>Aat	p.D129N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D129N|EPHA3_ENST00000452448.2_Missense_Mutation_p.D129N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	129						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGAGTCTGATGATGATCATGG	0.418000										TSP Lung(6;0.00050)			31	122					0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	210035	210035	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:210035G>A	ENST00000246105.4	+	2	206	c.175G>A	c.(175-177)Gtg>Atg	p.V59M		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	59					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGGACCAAAAGTGGTTAAATT	0.378000													20	42					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934556	28934556	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:28934556C>T	ENST00000257192.4	+	15	2609	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Silent_p.I158I|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	799					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCCACCAATCTCCCCACATT	0.507000													50	116					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116406747	116406747	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:116406747G>A	ENST00000281928.3	-	28	6429	c.6223C>T	c.(6223-6225)Cgg>Tgg	p.R2075W		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2075					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCCTTACCCGACTATGCTGG	0.473000													26	52					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30036947	30036947	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:30036947G>A	ENST00000564806.1	-	3	535	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	FAM57B_ENST00000380495.4_Intron|FAM57B_ENST00000279389.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGTGAGGGGGGGATGACGAAG	0.622000													27	39					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33451240	33451240	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:33451240G>A	ENST00000336431.5	-	2	325	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	94					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CGCTGCGGCGGAGAACGGGTC	0.672000													19	36					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													4	27					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530266	5530266	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:5530266G>A	ENST00000311659.4	-	2	670	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	175										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGAAGGGGTCATCAATG	0.572000													32	78					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191721	152191721	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:152191721C>T	ENST00000368801.2	-	3	2459	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	795					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCAGACCCGTGTTGGCC	0.602000													29	87					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57918206	57918206	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:57918206C>T	ENST00000564448.1	-	33	3660	c.3600G>A	c.(3598-3600)ggG>ggA	p.G1200G	CNGB1_ENST00000251102.8_Silent_p.G1206G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1206					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTCCGGCCTCCCAAGGGAGG	0.746000													19	38					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668893	53668893	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:53668893G>A	ENST00000600412.1	-	2	770	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.H284Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGTATGGATGACCTGA	0.408000													41	176					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655535	19655535	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:19655535C>T	ENST00000586018.1	+	8	2301	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	CILP2_ENST00000291495.4_Silent_p.F727F			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	727						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						GGCGCCTGTTCAATCTGGACG	0.706000													9	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215802155	215802155	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:215802155C>T	ENST00000366943.2	-	72	15978		c.e72+1		USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACCAACTCACCAGTCCACTG	0.502000										HNSCC(13;0.011)			22	51					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100695516	100695516	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:100695516C>T	ENST00000268070.4	-	9	1296	c.1191G>A	c.(1189-1191)atG>atA	p.M397I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	397	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGTCGTGGTTCATGCCCAAGC	0.532000													10	19					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064010	1064010	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:1064010C>T	ENST00000264930.5	-	20	2731	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	896					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACAAGAACATCTGCAGGTCCT	0.622000													29	59					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202270324	202270324	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:202270324G>T	ENST00000367278.3	+	9	979	c.890G>T	c.(889-891)gGa>gTa	p.G297V	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.G158V|LGR6_ENST00000255432.7_Missense_Mutation_p.G245V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	297						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAGTTTGTGGGAAGATCGGCA	0.483000													8	23					0.000442599	0.000444105	1	1	0
ARHGAP17	55114	broad.mit.edu	37	16	24979739	24979739	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:24979739G>A	ENST00000289968.6	-	6	463	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.P132S|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P132S	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	132	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGATGTTGGGAATCTCCACC	0.418000													19	56					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077589	32077589	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:32077589C>T	ENST00000354689.6	+	0	204				RP11-1166P10.6_ENST00000566806.1_RNA																							AAGGCCGATTCACCATCTCCA	0.517000													153	560					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228973656	228973656	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:228973656C>T	ENST00000392056.3	-	3	185		c.e3-1		SPHKAP_ENST00000344657.5_Splice_Site	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing							cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCGAAGAACCTGGAGGAACC	0.408000													14	47					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931766	184931766	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:184931766C>T	ENST00000308497.4	+	3	3210	c.1775C>T	c.(1774-1776)cCa>cTa	p.P592L	STOX2_ENST00000438269.1_Missense_Mutation_p.P592L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	592					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AACTCTTGTCCAACAAAAACA	0.517000													16	38					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150484813	150484813	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:150484813G>A	ENST00000354546.5	-	24	2059	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	ANXA6_ENST00000377751.5_Missense_Mutation_p.S268F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S605F|ANXA6_ENST00000521512.1_Missense_Mutation_p.S398F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S579F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	611						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCTTCATGGATTTGTAAAG	0.468000													24	20					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856728	13856728	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:13856728T>A	ENST00000284951.5	-	12	1134	c.1060A>T	c.(1060-1062)Aat>Tat	p.N354Y	SEL1L2_ENST00000378072.5_Missense_Mutation_p.N354Y|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	354						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTAGCGTTATTTTGCGGCACG	0.358000													67	127					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657241	34657241	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:34657241C>T	ENST00000314891.6	-	3	623	c.446G>A	c.(445-447)cGa>cAa	p.R149Q		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	149					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTTCTCAGCTCGGGACACAAC	0.547000													38	66					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25019811	25019811	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:25019811C>T	ENST00000400382.1	+	11	1703	c.948C>T	c.(946-948)atC>atT	p.I316I	GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.I316I|GGT1_ENST00000248923.4_Silent_p.I316I|GGT1_ENST00000400380.1_Silent_p.I316I|GGT1_ENST00000406383.2_Silent_p.I316I			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	316					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCACCGCATCGTAGAGGCTT	0.617000													17	32					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50966613	50966613	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:50966613G>A	ENST00000374103.4	-	2	111	c.26C>T	c.(25-27)tCc>tTc	p.S9F	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.S9F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	9					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCCAAGACGGGACGGCAGCAG	0.622000													13	28					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111368615	111368615	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:111368615G>A	ENST00000352690.4	+	14	1912	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	CD96_ENST00000283285.5_Missense_Mutation_p.E574K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	574	Pro-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGAGCCCAACGAAAGTGATCT	0.463000									Opitz Trigonocephaly syndrome				37	102					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341067	121341067	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:121341067C>T	ENST00000338040.4	+	3	1205	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	264					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGGGCGCTCCCAAAAAGAAA	0.483000													12	43					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990380	215990380	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:215990380C>T	ENST00000366943.2	-	48	9915	c.9529G>A	c.(9529-9531)Gaa>Aaa	p.E3177K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3177K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3177	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGATAGATTCAGGTTTTTGA	0.403000										HNSCC(13;0.011)			42	97					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601503	61601503	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:61601503G>A	ENST00000583023.1	+	2	91	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	KCNH6_ENST00000580652.1_Missense_Mutation_p.R27Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.R27Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.R27Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.R27Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	27					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACCCCAGGTCGGAAGTTCCTG	0.557000													223	136					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596459	41596459	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41596459C>T	ENST00000330436.3	+	4	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	215					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACGGCAACCTCCACGGGGCAG	0.592000													71	103					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131709	136131709	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:136131709C>T	ENST00000453660.2	-	0	419							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGCTTCTCCGCCGTCTCCAGG	0.697000													35	105					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684893	44684893	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:44684893C>T	ENST00000396058.1	+	5	2438	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.T757T|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	757					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAATCCACACCGGAGAAAAAC	0.433000													37	97					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422547	57422547	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:57422547G>A	ENST00000543257.1	-	4	696	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	C8B_ENST00000535057.1_Missense_Mutation_p.H34Y|C8B_ENST00000371237.4_Missense_Mutation_p.H96Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	96					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGTTCCCCATGGAACTGAGAG	0.517000													56	198					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176293	57176293	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:57176293C>T	ENST00000537055.2	-	2	505	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGATGCCTCTCCTTCGGGCTC	0.642000													46	71					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127361428	127361428	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:127361428C>T	ENST00000354725.3	+	10	1320	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	376	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CATCCGACCACCGAGGCTGGA	0.483000													22	69					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	75					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107318	13107318	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:13107318C>T	ENST00000399002.2	+	9	1507	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	411					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAGAGCAAATCATCAGATCAC	0.483000													59	127					0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24124207	24124207	+	Missense_Mutation	SNP	C	C	T	rs140878602	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:24124207C>T	ENST00000374497.3	-	6	597	c.506G>A	c.(505-507)cGg>cAg	p.R169Q		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	169			R -> W (in EDG).		galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCACAGGTCCCGGATCATTTC	0.622000													38	60					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692467	8692467	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8692467G>A	ENST00000299663.3	-	2	279	c.114C>T	c.(112-114)ttC>ttT	p.F38F	CLEC4E_ENST00000446457.2_Silent_p.F38F|CLEC4E_ENST00000545274.1_Silent_p.F38F	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	38						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATCTGGTGATGAAACAGGCAC	0.423000													95	269					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814438	137814438	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:137814438G>A	ENST00000409968.1	+	3	766	c.588G>A	c.(586-588)ggG>ggA	p.G196G	THSD7B_ENST00000413152.2_Silent_p.G165G|THSD7B_ENST00000543459.1_Silent_p.G55G|THSD7B_ENST00000272643.3_Silent_p.G196G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGGATGTGGGAAGAAATTGC	0.512000													78	196					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110813696	110813696	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:110813696G>A	ENST00000375820.4	-	49	4604	c.4483C>T	c.(4483-4485)Cgc>Tgc	p.R1495C	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1495	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGAACTTGCGCAGGCAGCTG	0.468000													10	13					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19513075	19513075	+	Missense_Mutation	SNP	T	T	C	rs140628130		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:19513075T>C	ENST00000375267.2	-	14	1712	c.1709A>G	c.(1708-1710)tAt>tGt	p.Y570C	UBR4_ENST00000375226.2_Missense_Mutation_p.Y570C|UBR4_ENST00000375217.2_Missense_Mutation_p.Y570C|UBR4_ENST00000375254.3_Missense_Mutation_p.Y570C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	570					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCGTCCTCATAGTAAGTATT	0.522000													12	52					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872863	55872863	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:55872863C>T	ENST00000313503.1	+	1	345	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTTACCTTCTCTCCTCAATGG	0.473000										HNSCC(53;0.14)			115	275					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35867558	35867558	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:35867558C>T	ENST00000303115.3	+	3	501	c.372C>T	c.(370-372)acC>acT	p.T124T	IL7R_ENST00000506850.1_Silent_p.T124T|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000511982.1_Silent_p.T124T|IL7R_ENST00000343305.4_Silent_p.T124T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	124					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.T124T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAGACCTAACCACTATAGGTA	0.343000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						23	52					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187171498	187171498	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:187171498C>T	ENST00000264690.6	+	7	887	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.H234Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	234	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGCACCTATCACCCCAACTG	0.458000													39	118					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	60522691	60522691	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:60522691G>A	ENST00000468189.1	-	5	375	c.5C>T	c.(4-6)tCg>tTg	p.S2L	FHIT_ENST00000492590.1_Missense_Mutation_p.S2L|FHIT_ENST00000341848.4_Missense_Mutation_p.S2L|FHIT_ENST00000476844.1_Missense_Mutation_p.S2L			P49789	FHIT_HUMAN	fragile histidine triad	2	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		AAATCTGAACGACATGTCCTC	0.383000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				12	32					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57931750	57931750	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:57931750C>T	ENST00000307658.7	+	4	1159	c.896C>T	c.(895-897)aCc>aTc	p.T299I	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.T297I			P17021	ZNF17_HUMAN	zinc finger protein 17	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGGATTCACACCAGGCCAAGG	0.468000													62	93					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74396312	74396312	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:74396312G>A	ENST00000319380.7	-	8	1135	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	357							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTTGGCTGGGAAGACATACA	0.582000													62	30					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430690	149430690	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:149430690C>T	ENST00000255992.10	+	18	3043	c.2644C>T	c.(2644-2646)Cct>Tct	p.P882S	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.P822S|KRBA1_ENST00000319551.8_Missense_Mutation_p.P822S	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	883										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCACGAGGCCTAAACCAAA	0.657000													6	8					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248874	20248874	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:20248874C>T	ENST00000315957.4	+	1	474	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACCCCTCCACTATGCTACCA	0.502000													61	181					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97702553	97702553	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:97702553G>T	ENST00000275053.4	-	10	1264	c.999C>A	c.(997-999)gaC>gaA	p.D333E	MMS22L_ENST00000369251.2_Missense_Mutation_p.D333E	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	333					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATCTTCTTCGGTCACTTGATT	0.353000													9	40					1.12685e-05	1.13325e-05	1	1	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			112	152					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76922365	76922365	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:76922365C>T	ENST00000409709.3	+	45	6492	c.6220C>T	c.(6220-6222)Cct>Tct	p.P2074S	MYO7A_ENST00000409619.2_Missense_Mutation_p.P2025S|MYO7A_ENST00000458637.2_Missense_Mutation_p.P2036S|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2074	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGTCTCACCTGATGACTG	0.647000													6	11					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104495	44104495	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:44104495G>A	ENST00000297283.3	-	2	588	c.531C>T	c.(529-531)gcC>gcT	p.A177A		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	177					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	p.A177A(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CTCGCTTGCCGGCCTTGATCT	0.647000													9	16					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131923439	131923439	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:131923439G>A	ENST00000403834.3	-	17	2205	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S	MED23_ENST00000539158.1_3'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.P313S|MED23_ENST00000368053.4_Missense_Mutation_p.P678S|MED23_ENST00000354577.4_Missense_Mutation_p.P678S|MED23_ENST00000540546.1_Missense_Mutation_p.P678S|MED23_ENST00000368068.3_Missense_Mutation_p.P672S|MED23_ENST00000368060.3_Missense_Mutation_p.P672S|MED23_ENST00000368058.1_Missense_Mutation_p.P678S			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	672					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACTGTTTTGGGATCACTAAGG	0.453000													7	52					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641102	156641102	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:156641102C>T	ENST00000368223.3	-	4	3010	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	960	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCCAGTTCTTGGTCCTTC	0.567000													98	274					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42264749	42264749	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:42264749C>T	ENST00000361204.4	+	3	839	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	225	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACCCTTGCCCCGGCTACGGT	0.622000													16	34					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66878017	66878017	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:66878017G>A	ENST00000269080.2	-	29	3950	c.3813C>T	c.(3811-3813)ttC>ttT	p.F1271F	ABCA8_ENST00000430352.2_Silent_p.F1311F|ABCA8_ENST00000586539.1_Silent_p.F1311F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1271	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTCTAACACAGAAGGAGACAT	0.478000													58	41					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852977	2852977	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:2852977C>T	ENST00000334241.4	+	4	1052	c.914C>T	c.(913-915)tCa>tTa	p.S305L	ZNF555_ENST00000591539.1_Missense_Mutation_p.S304L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATATGATTTCACACACTGGA	0.413000													24	31					0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118184587	118184587	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:118184587G>A	ENST00000361763.4	+	7	809	c.518G>A	c.(517-519)aGg>aAg	p.R173K	CD3E_ENST00000528600.1_Missense_Mutation_p.R167K	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	173					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGCAGGCAAAGGGGTAAGGCT	0.602000													15	40					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886493	228886493	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:228886493C>T	ENST00000392056.3	-	6	677	c.631G>A	c.(631-633)Gag>Aag	p.E211K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E211K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	211						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTCTTCCTCGATTGAAGAT	0.468000													29	73					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489503	128489503	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:128489503C>T	ENST00000325888.8	+	30	5331	c.5070C>T	c.(5068-5070)ctC>ctT	p.L1690L	FLNC_ENST00000346177.6_Silent_p.L1690L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1690					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCAGAGCTCGATGTGGATG	0.602000													21	66					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739304	26739304	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:26739304C>T	ENST00000272371.2	-	5	617	c.491G>A	c.(490-492)gGa>gAa	p.G164E	OTOF_ENST00000403946.3_Missense_Mutation_p.G164E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	164					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCTTCTCTCCTGGGGGCCG	0.637000													52	122					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132174099	132174099	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:132174099C>T	ENST00000359827.3	-	3	2285	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	PLXNA4_ENST00000423507.2_Silent_p.K441K|PLXNA4_ENST00000321063.4_Silent_p.K441K|PLXNA4_ENST00000378539.5_Silent_p.K441K			Q9HCM2	PLXA4_HUMAN	plexin A4	441	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGAGTGGTTCTTGTAGACAT	0.527000													20	70					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406470	38406470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:38406470G>T	ENST00000351773.3	+	8	1221	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	ZNF37A_ENST00000361085.4_Nonsense_Mutation_p.E131*	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	131						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CTGGCTGAATGAAGACCTCAT	0.348000													46	61					2.00842e-17	2.03137e-17	1	1	0
TTN	7273	broad.mit.edu	37	2	179584887	179584887	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179584887A>C	ENST00000589042.1	-	81	23706	c.23482T>G	c.(23482-23484)Tgg>Ggg	p.W7828G	TTN_ENST00000342992.6_Missense_Mutation_p.W6584G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W7511G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7511	Ig-like 60.						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)			TCTTTCAGCCAGACAACAGAA	0.468000													21	54					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39950280	39950280	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:39950280C>T	ENST00000564288.1	+	100	23066	c.22289C>T	c.(22288-22290)cCa>cTa	p.P7430L	MACF1_ENST00000361689.2_Missense_Mutation_p.P5305L|MACF1_ENST00000372915.3_Missense_Mutation_p.P7263L|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813L|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305L|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175L|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467L|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7263					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGGTTATCCCATCATCAGGT	0.383000													93	127					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174231943	174231943	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:174231943G>A	ENST00000306721.3	+	9	1354	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	CDCA7_ENST00000410101.3_Silent_p.R373R|CDCA7_ENST00000410019.3_Silent_p.R296R|CDCA7_ENST00000347703.3_Silent_p.R338R|CDCA7_ENST00000392567.2_Silent_p.R288R	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	338					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GAGATGGACGGTGTGCGACTG	0.483000													25	66					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861869	131861869	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:131861869G>A	ENST00000286355.5	-	10	4483	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	797					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCACCCAGGAAATTAATCA	0.453000										HNSCC(32;0.087)			25	47					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100176341	100176341	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:100176341A>T	ENST00000310300.6	-	5	719	c.667T>A	c.(667-669)Ttc>Atc	p.F223I	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	223					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGGCAGAAGGAGACTGGG	0.632000													26	82					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929721	121929721	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:121929721G>A	ENST00000265922.3	-	8	2388	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		643					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTCTTGGAGGGATCCGACAGG	0.562000													69	152					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732223	92732223	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:92732223C>T	ENST00000379958.2	-	3	3457	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1063						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTTCATTTCCTTCATCTTT	0.393000													19	50					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607832	46607832	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:46607832C>T	ENST00000239174.6	-	1	527	c.435G>A	c.(433-435)ggG>ggA	p.G145G	HOXB1_ENST00000577092.1_Silent_p.G145G	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	145						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTGCTCGTTCCCATAAGGGG	0.642000													32	32					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757435	8757435	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8757435G>A	ENST00000229335.6	-	4	614	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	AICDA_ENST00000537228.1_Missense_Mutation_p.R161C	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	171					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTGGAGAGACGAACTGAATTT	0.368000													56	126					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63976020	63976020	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:63976020T>G	ENST00000398590.3	+	10	2083	c.1530T>G	c.(1528-1530)caT>caG	p.H510Q	ATXN7_ENST00000295900.6_Missense_Mutation_p.H510Q|ATXN7_ENST00000538065.1_Missense_Mutation_p.H510Q|ATXN7_ENST00000487717.1_Missense_Mutation_p.H510Q|ATXN7_ENST00000484332.1_Missense_Mutation_p.H365Q	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	510					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGGACTGTCATTATTCAGGTC	0.582000													28	54					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9021104	9021104	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9021104G>A	ENST00000397910.4	-	19	37422	c.37219C>T	c.(37219-37221)Cac>Tac	p.H12407Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12409	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGGGTGACCCATGTCC	0.547000													61	84					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37888527	37888527	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:37888527G>A	ENST00000403299.1	-	19	2882	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	CARD10_ENST00000251973.5_Missense_Mutation_p.S889F|CARD10_ENST00000406271.3_Missense_Mutation_p.S603F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	889					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGGCGCTGAGGATGGGCACAG	0.672000													17	48					0	0	1	0	0
ZNF330	27309	broad.mit.edu	37	4	142154923	142154923	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:142154923C>T	ENST00000262990.4	+	10	971	c.743C>T	c.(742-744)tCt>tTt	p.S248F	ZNF330_ENST00000421169.2_Missense_Mutation_p.S188F	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	248						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GATGGAGCTTCTGGGTATGAT	0.453000													19	39					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049287	21049287	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:21049287G>A	ENST00000261383.3	-	34	4745	c.4746C>T	c.(4744-4746)atC>atT	p.I1582I	DNAH3_ENST00000415178.1_Silent_p.I1582I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1582	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I1582I(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCGCAACGATCTTCTGGG	0.552000													11	30					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39585611	39585611	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:39585611G>A	ENST00000352251.3	-	13	3559	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L	PROSER1_ENST00000350125.3_Missense_Mutation_p.S887L|PROSER1_ENST00000484434.2_5'UTR	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	909																	TTCCAGAGCCGAAGCTGAATG	0.507000													21	50					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262799	144262799	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:144262799C>T	ENST00000360537.2	-	5	3067	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D	PLAGL1_ENST00000444202.1_Missense_Mutation_p.G385D|PLAGL1_ENST00000367572.1_Missense_Mutation_p.G333D|PLAGL1_ENST00000392307.1_Missense_Mutation_p.G333D|PLAGL1_ENST00000367571.1_Missense_Mutation_p.G385D|PLAGL1_ENST00000416623.1_Missense_Mutation_p.G385D|PLAGL1_ENST00000437412.1_Missense_Mutation_p.G333D|PLAGL1_ENST00000429150.1_Missense_Mutation_p.G385D|PLAGL1_ENST00000354765.2_Missense_Mutation_p.G385D|PLAGL1_ENST00000392309.1_Missense_Mutation_p.G385D			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	385					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CTGCCAGAAGCCCAACAGGGG	0.557000													18	54					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672385	186672385	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:186672385G>C	ENST00000343098.5	+	17	18619	c.18619G>C	c.(18619-18621)Gtt>Ctt	p.V6207L	FSIP2_ENST00000424728.1_Missense_Mutation_p.V6118L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAAAACATAGTTGACTTGGT	0.393000													37	106					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149915417	149915417	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:149915417C>T	ENST00000261797.6	+	6	1909	c.1407C>T	c.(1405-1407)taC>taT	p.Y469Y	NDST1_ENST00000523767.1_Silent_p.Y469Y	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	469	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCCGCTACCGCCGTGGCT	0.617000													14	20					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85686859	85686859	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:85686859G>A	ENST00000521268.1	+	3	1407	c.302G>A	c.(301-303)gGa>gAa	p.G101E	RALYL_ENST00000521376.1_Missense_Mutation_p.G28E|RALYL_ENST00000518566.1_Missense_Mutation_p.G101E|RALYL_ENST00000523850.1_Missense_Mutation_p.G28E|RALYL_ENST00000521695.1_Missense_Mutation_p.G101E|RALYL_ENST00000522455.1_Missense_Mutation_p.G101E|RALYL_ENST00000517638.1_Missense_Mutation_p.G114E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	101							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCAAAACCTGGAAACAAGAGG	0.353000													3	15					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43496154	43496154	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:43496154C>T	ENST00000408989.2	+	2	117	c.117C>T	c.(115-117)caC>caT	p.H39H	UMODL1_ENST00000400424.1_5'UTR|UMODL1_ENST00000408910.2_Silent_p.H39H|UMODL1_ENST00000400427.1_5'UTR	NM_173568.3	NP_775839.3	Q5DID0	UROL1_HUMAN	uromodulin-like 1	39	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TATGCAGCCACCGTGTGACCC	0.597000													61	157					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113637807	113637807	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:113637807C>T	ENST00000374431.3	-	5	1372	c.989G>A	c.(988-990)cGc>cAc	p.R330H	LPAR1_ENST00000541779.1_Missense_Mutation_p.R331H|LPAR1_ENST00000538760.1_Missense_Mutation_p.R331H|LPAR1_ENST00000374430.2_Missense_Mutation_p.R330H|LPAR1_ENST00000358883.4_Missense_Mutation_p.R330H	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	330					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTTCTCACTGCGCTGGCAGCA	0.557000													48	114					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239753	134239753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:134239753G>A	ENST00000517423.1	+	3	510	c.449G>A	c.(448-450)tGg>tAg	p.W150*	WISP1_ENST00000250160.6_Missense_Mutation_p.G302R|WISP1_ENST00000377863.2_Missense_Mutation_p.G130R|WISP1_ENST00000220856.6_Missense_Mutation_p.G215R|WISP1_ENST00000519433.1_Missense_Mutation_p.G57R	NM_001204869.1	NP_001191798.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	0	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAAGTACTGTGGAGTTTGCAT	0.547000													26	101					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693441	99693441	+	Silent	SNP	G	G	A	rs149943121		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:99693441G>A	ENST00000303887.5	-	11	2196	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Silent_p.L341L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	517	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCAGCCAGAGGAGGTCAAACC	0.597000													43	140					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715526	139715526	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:139715526C>T	ENST00000263552.6	+	15	1771	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Silent_p.F456F|TBXAS1_ENST00000448866.1_Silent_p.F410F|TBXAS1_ENST00000425687.1_Silent_p.F343F|TBXAS1_ENST00000336425.5_Silent_p.F410F|TBXAS1_ENST00000436047.2_Silent_p.F411F|TBXAS1_ENST00000416849.2_Silent_p.F457F|TBXAS1_ENST00000414508.2_Silent_p.F411F|TBXAS1_ENST00000411653.1_Silent_p.F410F	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	410					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCTCAGATTCACACGGGAGG	0.637000													41	90					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537547	27537547	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:27537547C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AAGCTCAGTTCTGTGAGTAAA	0.353000													37	52					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33132086	33132086	+	Silent	SNP	C	C	T	rs144290562		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:33132086C>T	ENST00000341947.2	-	65	5255	c.5028G>A	c.(5026-5028)ccG>ccA	p.P1676P	COL11A2_ENST00000374713.1_Silent_p.P1629P|COL11A2_ENST00000374712.1_Silent_p.P1595P|COL11A2_ENST00000361917.1_Silent_p.P1569P|COL11A2_ENST00000357486.1_Silent_p.P1655P|COL11A2_ENST00000374714.1_Silent_p.P1650P|COL11A2_ENST00000395197.1_Silent_p.P1616P|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374708.4_Silent_p.P1590P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1676	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGCTAGTCTCCGGGCTCAGCT	0.612000													10	38					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378023	19378023	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:19378023C>T	ENST00000550708.1	+	1	502	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCTGCCGTCCCTTGCTCTA	0.443000													46	162					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42893136	42893136	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:42893136G>A	ENST00000342560.5	+	5	785	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E41K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	233	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCCTCGGGGAACTGGCCAT	0.612000											OREG0006458	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=GDAP1L1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	20	51					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289219	62289219	+	Missense_Mutation	SNP	G	G	A	rs143211270	by1000genomes	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:62289219G>A	ENST00000519846.1	+	4	983	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CLVS1_ENST00000325897.4_Missense_Mutation_p.E171K|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E171K(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTCCTAATCGAAGATCCGGA	0.438000													28	90					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173341226	173341226	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:173341226C>T	ENST00000375221.2	+	10	1693	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	ITGA6_ENST00000264107.7_Missense_Mutation_p.S458L|ITGA6_ENST00000409080.1_Missense_Mutation_p.S458L|ITGA6_ENST00000409532.1_Missense_Mutation_p.S339L|ITGA6_ENST00000264106.6_Missense_Mutation_p.S497L|ITGA6_ENST00000343713.4_Missense_Mutation_p.S453L			P23229	ITA6_HUMAN	integrin, alpha 6	497					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTCTCAGATTCAGTAACTATT	0.353000													14	68					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94751101	94751101	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:94751101T>C	ENST00000306011.3	+	1	1060	c.1024T>C	c.(1024-1026)Tcc>Ccc	p.S342P		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	342					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGGGGAATTTTCCCCCCATTC	0.522000													48	136					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732438	152732438	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:152732438C>T	ENST00000368773.1	+	2	432	c.374C>T	c.(373-375)tCa>tTa	p.S125L	KPRP_ENST00000606109.1_Missense_Mutation_p.S125L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	125	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCGAAGCGTCACAACCTGTT	0.498000													97	288					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426396	132426396	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:132426396C>T	ENST00000542167.2	+	4	1698	c.945C>T	c.(943-945)ttC>ttT	p.F315F	PUS1_ENST00000440818.2_Silent_p.F340F|PUS1_ENST00000443358.2_Silent_p.F340F|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Silent_p.F368F			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	368						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TCGCAGCCTTCAAGGAGGAGC	0.607000													16	61					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711560	152711560	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:152711560C>T	ENST00000367255.5	-	53	8633	c.8032G>A	c.(8032-8034)Gaa>Aaa	p.E2678K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2678K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2685K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2717K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2685K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2678					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTTAACTTCCCCTTCACCT	0.403000										HNSCC(10;0.0054)			8	35					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635061	33635061	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:33635061C>T	ENST00000380099.3	+	4	1853	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	615	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACCACACCATCCTGCAGTACT	0.582000													34	100					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152679967	152679967	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:152679967G>A	ENST00000263985.6	-	2	324	c.284C>T	c.(283-285)tCt>tTt	p.S95F	PET112_ENST00000512306.1_Missense_Mutation_p.S95F|PET112_ENST00000515812.1_Missense_Mutation_p.S95F|PET112_ENST00000508611.1_Missense_Mutation_p.S95F	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	95						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGAAACCAAAGAATTTGGAGG	0.358000													52	121					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955711	18955711	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:18955711C>T	ENST00000302797.3	-	1	845	c.621G>A	c.(619-621)cgG>cgA	p.R207R	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	207					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGGTATCTTCCGGGATCCAC	0.493000													26	53					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220370991	220370991	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:220370991C>T	ENST00000358215.3	+	12	1378	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	GMPPA_ENST00000373908.1_Silent_p.L337L|GMPPA_ENST00000313597.5_Silent_p.L337L|GMPPA_ENST00000341142.3_Silent_p.L337L|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Silent_p.L390L	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	337					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CACGTGTGTTCTGCATAGCAT	0.642000													40	92					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697297	111697297	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:111697297C>T	ENST00000435970.1	-	15	2843	c.2027G>A	c.(2026-2028)aGa>aAa	p.R676K	REV3L_ENST00000368805.1_Missense_Mutation_p.R754K|REV3L_ENST00000358835.3_Missense_Mutation_p.R754K|REV3L_ENST00000368802.3_Missense_Mutation_p.R754K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	754					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACCATAGTTCTATTCTCCCC	0.343000								DNA polymerases (catalytic subunits)					26	94					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170117	57170117	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:57170117G>A	ENST00000371244.4	+	7	1328	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	421					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R421L(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGTTTACCGAGCTATGAAG	0.378000													85	89					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253736	47253736	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:47253736G>A	ENST00000296861.2	-	2	1085	c.692C>T	c.(691-693)cCa>cTa	p.P231L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	231					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCAGGGCGTGGAAAGATGGC	0.522000													12	59					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123912687	123912687	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:123912687C>A	ENST00000373855.1	+	25	4149	c.3889C>A	c.(3889-3891)Cca>Aca	p.P1297T	CNTRL_ENST00000373847.1_Missense_Mutation_p.P745T|CNTRL_ENST00000373850.1_Missense_Mutation_p.P745T|CNTRL_ENST00000238341.5_Missense_Mutation_p.P1297T			Q7Z7A1	CNTRL_HUMAN	centriolin	1297	Pro-rich.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTATGGGCCTCCACCCCCCAA	0.552000													39	77					2.32173e-10	2.34291e-10	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													7	103					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29185756	29185756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:29185756G>A	ENST00000234961.2	+	2	760	c.518G>A	c.(517-519)tGg>tAg	p.W173*		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	173					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	ATCTGTATCTGGGTCCTGGCC	0.607000													21	50					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590618	102590618	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:102590618C>T	ENST00000330847.1	+	2	371	c.327C>T	c.(325-327)caC>caT	p.H109H	NR4A3_ENST00000338488.4_Silent_p.H98H|NR4A3_ENST00000395097.2_Silent_p.H98H			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	98					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				atcaccatcaccaccaccacc	0.617000			T	EWSR1	extraskeletal myxoid chondrosarcoma								4	58					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36641948	36641948	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:36641948G>A	ENST00000399881.3	+	1	57	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	7						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTAAGCTACGAAATGAAACT	0.453000													15	36					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62588784	62588784	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:62588784G>A	ENST00000379449.6	-	5	636	c.462C>T	c.(460-462)ttC>ttT	p.F154F	ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517661.1_Silent_p.F125F|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000518068.1_Intron	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	0	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAAATGAGAGGAAACCATAAA	0.373000													4	21					0	0	1	0	0
GUCA2B	2981	broad.mit.edu	37	1	42619156	42619156	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:42619156G>A	ENST00000372581.1	+	1	65	c.35G>A	c.(34-36)gGa>gAa	p.G12E		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	12					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCCTGCCAGGAGTGGCCGTG	0.657000													17	37					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043504	20043504	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:20043504G>A	ENST00000570682.1	-	2	915	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	205						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTACACAATGATTGAGTTCA	0.507000													27	72					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740659	62740659	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:62740659G>A	ENST00000371153.4	-	3	495	c.117C>T	c.(115-117)ttC>ttT	p.F39F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	39										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CATACTTGAGGAAGTCCAGGT	0.488000													87	110					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375591	46375591	+	Missense_Mutation	SNP	C	C	T	rs145277260	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:46375591C>T	ENST00000302177.2	+	2	525	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	110					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GAAGGGGTATCGGCGGCCCCT	0.642000													90	75					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228117	174228117	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:174228117C>T	ENST00000306721.3	+	4	651	c.548C>T	c.(547-549)tCc>tTc	p.S183F	CDCA7_ENST00000410101.3_Missense_Mutation_p.S139F|CDCA7_ENST00000410019.3_Missense_Mutation_p.S62F|CDCA7_ENST00000347703.3_Missense_Mutation_p.S104F|CDCA7_ENST00000392567.2_Missense_Mutation_p.S104F	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	104	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATTCCAACTCCGATTCAGAA	0.433000													24	49					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432717	25432717	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:25432717G>A	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						TGTCTGAAGAGAGGTGATGAC	0.507000													152	456					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23392093	23392093	+	Missense_Mutation	SNP	G	G	A	rs140609339		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:23392093G>A	ENST00000343070.2	+	13	2070	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	SCNN1B_ENST00000568085.1_Missense_Mutation_p.E596K|SCNN1B_ENST00000568923.1_Missense_Mutation_p.E605K|SCNN1B_ENST00000307331.5_Missense_Mutation_p.E677K	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	632			E -> G.		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGACGTCATCGAGTCTGACAG	0.657000													40	139					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401160	50401160	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:50401160C>T	ENST00000217086.4	-	4	2917	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	SALL4_ENST00000395997.3_Missense_Mutation_p.E499K|SALL4_ENST00000371539.3_Missense_Mutation_p.E159K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	936					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGGTGTTCTCGATGGCCAAC	0.493000													35	70					0	0	1	0	0
FAM115C	285966	broad.mit.edu	37	7	143421686	143421686	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:143421686G>A	ENST00000441159.2	+	7	2467	c.2401G>A	c.(2401-2403)Gct>Act	p.A801T	FAM115C_ENST00000357344.4_Missense_Mutation_p.A801T|FAM115C_ENST00000444908.2_Missense_Mutation_p.A801T|FAM115C_ENST00000425618.2_Missense_Mutation_p.A520T|FAM115C_ENST00000411935.1_Missense_Mutation_p.A697T|FAM115C_ENST00000411497.2_Missense_Mutation_p.A520T|FAM115C_ENST00000409703.3_Missense_Mutation_p.A697T			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	801										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GGCCCACGAGGCTCTGAGCCC	0.582000													30	63					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38994419	38994419	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:38994419G>A	ENST00000359357.3	+	90	13415	c.13161G>A	c.(13159-13161)aaG>aaA	p.K4387K	DNAH8_ENST00000441566.1_Silent_p.K4351K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACAGACCAAGGAGGAGATCA	0.532000													36	76					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			113	148					6.83383e-50	6.95965e-50	1	1	0
TTBK1	84630	broad.mit.edu	37	6	43220597	43220597	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:43220597G>A	ENST00000259750.4	+	3	312	c.229G>A	c.(229-231)Gag>Aag	p.E77K	TTBK1_ENST00000304139.5_Missense_Mutation_p.E26K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	77	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTCAAGATGGAGGTGGCCGT	0.587000													32	106					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133802688	133802688	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:133802688G>A	ENST00000367895.5	+	12	1522	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	EYA4_ENST00000431403.2_Missense_Mutation_p.G353E|EYA4_ENST00000355167.3_Missense_Mutation_p.G353E|EYA4_ENST00000430974.2_Missense_Mutation_p.G305E|EYA4_ENST00000531901.1_Missense_Mutation_p.G359E|EYA4_ENST00000355286.6_Missense_Mutation_p.G330E|EYA4_ENST00000525849.1_Missense_Mutation_p.G330E|EYA4_ENST00000452339.2_Missense_Mutation_p.G299E	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	353					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAGTCCAGAGGAAGAGGCCGG	0.453000													31	118					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4925420	4925420	+	Silent	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:4925420G>T	ENST00000396658.4	+	14	3712	c.3009G>T	c.(3007-3009)tcG>tcT	p.S1003S	UBN1_ENST00000590769.1_Silent_p.S1003S|UBN1_ENST00000262376.6_Silent_p.S1003S|UBN1_ENST00000545171.1_Silent_p.S1003S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1003	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GTGTGACATCGTCTACCTCCT	0.592000													53	130					1.74971e-23	1.7758e-23	1	1	0
OR9A4	130075	broad.mit.edu	37	7	141618794	141618794	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:141618794G>A	ENST00000548136.1	+	1	178	c.119G>A	c.(118-120)gGa>gAa	p.G40E	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATTAATGGGAAACACAGTC	0.443000													85	161					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209817	139209817	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:139209817G>A	ENST00000395297.1	-	8	935	c.765C>T	c.(763-765)ctC>ctT	p.L255L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	255										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)			AGTGGAGACGGAGACCCCGGT	0.602000										HNSCC(54;0.14)			26	59					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23417983	23417983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:23417983C>T	ENST00000302291.4	-	4	3573	c.2772G>A	c.(2770-2772)tgG>tgA	p.W924*	LUZP1_ENST00000418342.1_Nonsense_Mutation_p.W924*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.W924*|LUZP1_ENST00000374623.3_Nonsense_Mutation_p.W924*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	924						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCCTACTCTTCCAGGCATTCC	0.502000													35	146					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931225	13931225	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13931225C>T	ENST00000265104.4	-	2	290	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	62	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCTGATTCCCTTCAAGAA	0.502000									Kartagener syndrome				30	62					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182403895	182403895	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:182403895C>T	ENST00000410087.3	-	12	1562	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	CERKL_ENST00000409440.3_Missense_Mutation_p.E470K|CERKL_ENST00000374969.2_Missense_Mutation_p.E375K|CERKL_ENST00000374970.2_Missense_Mutation_p.E419K|CERKL_ENST00000339098.5_Missense_Mutation_p.E514K	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	514					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAAGCAGTTTCATCCTCCTCC	0.373000													34	88					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3646845	3646845	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:3646845C>T	ENST00000263087.4	-	19	2484	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	796					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCGTCTGTCCCTCAGGGGTC	0.582000													72	109					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75658870	75658870	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:75658870G>A	ENST00000565683.1	-	4	426	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	MAN2C1_ENST00000569482.1_Missense_Mutation_p.P139S|MAN2C1_ENST00000267978.5_Missense_Mutation_p.P139S|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Missense_Mutation_p.P139S	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	139					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CACCTTCGGGGGTCTCTTTCC	0.577000													10	17					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103313	52103313	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:52103313C>T	ENST00000361781.2	-	7	1521	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.E188K	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	194					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCATTAATTTCACAAATAGAA	0.433000													4	49					0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12790694	12790694	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:12790694G>A	ENST00000210060.7	-	3	550	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	DHPS_ENST00000594424.1_Missense_Mutation_p.L97F|DHPS_ENST00000351660.5_Missense_Mutation_p.L139F|DHPS_ENST00000599481.1_5'UTR	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	139					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CACTTGATGAGGTCTTCCTCC	0.587000													25	39					0	0	1	0	0
RTCB	51493	broad.mit.edu	37	22	32795727	32795727	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:32795727C>T	ENST00000216038.5	-	6	615	c.517G>A	c.(517-519)Gag>Aag	p.E173K	RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		ACCCCCATCTCCAAGGCCTCC	0.512000													96	174					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132195960	132195960	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:132195960C>T	ENST00000261674.4	+	1	327	c.186C>T	c.(184-186)ccC>ccT	p.P62P	SFSWAP_ENST00000541286.1_Silent_p.P62P	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	62					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						ACCTCATCCCCTGGATGGGGG	0.617000													28	67					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	139					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782369	54782369	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:54782369C>T	ENST00000391748.1	-	7	1130	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	LILRB2_ENST00000391746.1_Missense_Mutation_p.V335M|LILRB2_ENST00000434421.1_Missense_Mutation_p.V219M|LILRB2_ENST00000391749.4_Missense_Mutation_p.V335M|LILRB2_ENST00000314446.5_Missense_Mutation_p.V335M	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	335	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGAGGCCACTGTGGGGCCT	0.607000													25	87					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128103504	128103504	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:128103504C>T	ENST00000470056.1	+	16	3086	c.2926C>T	c.(2926-2928)Cct>Tct	p.P976S	GAPVD1_ENST00000297933.6_Missense_Mutation_p.P976S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P950S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1003S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P955S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P976S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P955S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P976S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	976					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGGAACAGACCTTGGTGGAG	0.378000													22	48					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040238	31040238	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:31040238C>T	ENST00000355537.3	+	4	3859	c.3712C>T	c.(3712-3714)Ctt>Ttt	p.L1238F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCCAGGGTCTTCTCCAAGC	0.667000													21	60					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94275793	94275793	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:94275793C>T	ENST00000515393.1	-	5	1167	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	MCTP1_ENST00000429576.2_Missense_Mutation_p.D169N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D169N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D169N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	390					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTACCACATCCCTGGACTCT	0.448000													61	85					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133073771	133073771	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:133073771G>A	ENST00000326499.6	-	4	779	c.655C>T	c.(655-657)Cct>Tct	p.P219S	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.P166S	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	219	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAACACCAGGATCATAGAAG	0.438000													41	130					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62522197	62522197	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:62522197A>C	ENST00000383710.4	-	12	2375	c.2026T>G	c.(2026-2028)Ttt>Gtt	p.F676V	CADPS_ENST00000357948.3_Missense_Mutation_p.F676V|CADPS_ENST00000283269.9_Missense_Mutation_p.F676V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	676					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCGTGGTCAAAGTTACAGGGG	0.398000													14	142					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332031	70332031	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:70332031G>A	ENST00000338508.4	-	32	4369	c.4370C>T	c.(4369-4371)cCa>cTa	p.P1457L	SHANK2_ENST00000423696.2_Missense_Mutation_p.P1077L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P860L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P861L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1077	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGAGTTGGTTGGTTGGCTGGA	0.567000													37	87					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45515532	45515532	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:45515532G>A	ENST00000221452.8	+	4	652	c.502G>A	c.(502-504)Gag>Aag	p.E168K	RELB_ENST00000540120.1_Missense_Mutation_p.E168K|RELB_ENST00000505236.1_Missense_Mutation_p.E165K	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	168	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCCGCCATCGAGGTGGGCCC	0.687000													6	30					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137288	121137288	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:121137288G>A	ENST00000273666.6	+	27	3674	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E1111K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1135	v-SNARE coiled-coil homology.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGATGGGAGAGCTGACCCG	0.542000													12	50					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956811	42956811	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:42956811T>C	ENST00000541208.1	+	5	1615	c.1246T>C	c.(1246-1248)Tat>Cat	p.Y416H	ZNF662_ENST00000440367.2_Missense_Mutation_p.Y416H|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.Y442H|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGACAAACCCTATAACTGTCA	0.413000													24	43					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367541	142367541	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:142367541G>A	ENST00000377741.3	-	2	573	c.483C>T	c.(481-483)tgC>tgT	p.C161C		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	161						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CAGGCTGGCGGCAGCGGCGGG	0.692000													13	9					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102981495	102981495	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:102981495G>T	ENST00000504592.1	+	16	2470	c.2052G>T	c.(2050-2052)gaG>gaT	p.E684D	BANK1_ENST00000322953.4_Missense_Mutation_p.E699D|BANK1_ENST00000428908.1_Missense_Mutation_p.E566D|BANK1_ENST00000508653.1_Missense_Mutation_p.E566D|BANK1_ENST00000444316.2_Missense_Mutation_p.E669D			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	699					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGCTCTGGAGAAATTTAAAC	0.458000													32	82					6.05902e-23	6.1423e-23	1	1	0
RD3	343035	broad.mit.edu	37	1	211654464	211654464	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:211654464G>A	ENST00000367002.4	-	2	1457	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	98					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GTGCTCACCTGAGGATAGCAG	0.617000													15	40					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55183172	55183172	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:55183172C>T	ENST00000414150.2	+	26	4222	c.3944C>T	c.(3943-3945)cCa>cTa	p.P1315L	TTC4_ENST00000371281.3_Silent_p.A79A|TTC4_ENST00000371284.5_3'UTR					maestro heat-like repeat family member 7																		CAGAACAGGCCAAGACCTATA	0.308000													8	32					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47351283	47351283	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:47351283C>T	ENST00000426342.1	-	11	2232	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	MDGA2_ENST00000399232.2_Missense_Mutation_p.E794K|MDGA2_ENST00000439988.2_Missense_Mutation_p.E725K|MDGA2_ENST00000357362.3_Missense_Mutation_p.E496K|MDGA2_ENST00000399222.3_5'UTR	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	725	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAATCTCCTTCACCAAATTTG	0.308000													8	18					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955918	156955918	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:156955918G>A	ENST00000368194.3	-	2	1119	c.80C>T	c.(79-81)tCc>tTc	p.S27F	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S27F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	27					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGGAAGGGGACTTGCGCTC	0.542000													22	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179482797	179482797	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179482797G>A	ENST00000589042.1	-	253	47505	c.47281C>T	c.(47281-47283)Cct>Tct	p.P15761S	TTN_ENST00000342992.6_Missense_Mutation_p.P13193S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6696S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14120S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6821S|TTN_ENST00000342175.6_Missense_Mutation_p.P6888S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14120	Fibronectin type-III 14.						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)			TTCAAAGGAGGGCCTGGAACA	0.418000													21	51					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846641	7846641	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:7846641C>T	ENST00000328375.1	-	1	878	c.879G>A	c.(877-879)agG>agA	p.R293R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCTTGTTCCTGAGGCTGT	0.408000													20	59					0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73889492	73889492	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:73889492T>C	ENST00000345330.4	-	2	507	c.310A>G	c.(310-312)Acc>Gcc	p.T104A	NPTN_ENST00000563691.1_Missense_Mutation_p.T104A|NPTN_ENST00000287226.8_Missense_Mutation_p.T104A|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.T104A|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000351217.6_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	104	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTGAGCCGGGTTATTCTCAGC	0.582000													22	55					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13931251C>T	ENST00000265104.4	-	2	264	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	54	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E54K(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCACTTCGGTTTTGTTC	0.488000									Kartagener syndrome				31	76					0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63519930	63519930	+	Silent	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:63519930G>T	ENST00000330194.2	+	5	707	c.402G>T	c.(400-402)acG>acT	p.T134T		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	134										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TATTGGATACGGAAATGAAGG	0.383000													6	17					3.59834e-05	3.61467e-05	1	1	0
GJA1	2697	broad.mit.edu	37	6	121769136	121769136	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:121769136G>A	ENST00000282561.3	+	2	1300	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	381					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATGACCTGGAGATCTAGATAC	0.498000													30	66					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307858	39307858	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:39307858C>T	ENST00000541347.1	-	2	382	c.143G>A	c.(142-144)gGa>gAa	p.G48E	CX3CR1_ENST00000358309.3_Missense_Mutation_p.G80E|CX3CR1_ENST00000399220.2_Missense_Mutation_p.G48E|CX3CR1_ENST00000542107.1_Missense_Mutation_p.G48E	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	48					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAACAAATTTCCCACCAGGCC	0.488000													18	68					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67501979	67501979	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:67501979C>T	ENST00000590474.1	+	2	362	c.75C>T	c.(73-75)acC>acT	p.T25T	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	25					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AACCTCAGACCAGTTCCACGT	0.418000													70	42					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508044	71508044	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:71508044G>A	ENST00000396073.3	+	9	1182	c.901G>A	c.(901-903)Gga>Aga	p.G301R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	301					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTCAGGCCAGGGAGGGCCAGG	0.493000													31	79					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409042	82409042	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:82409042G>A	ENST00000370728.1	+	8	1432	c.787G>A	c.(787-789)Gat>Aat	p.D263N	LPHN2_ENST00000359929.3_Missense_Mutation_p.D263N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D267N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D263N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D263N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D263N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D263N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D263N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D263N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D263N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D263N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D263N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.D263N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D263N			O95490	LPHN2_HUMAN	latrophilin 2	263	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGGAAAGACTGATATCGACCT	0.408000													45	133					0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233240	56233240	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:56233240G>A	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CCTACGATAAGAAAAAGCGGA	0.577000													9	19					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83931899	83931899	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:83931899C>T	ENST00000345382.2	-	4	2189	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	BNC1_ENST00000569704.1_Missense_Mutation_p.E695K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	702					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGCTCCAGTTCTTTAGAATCT	0.473000													24	66					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551905	100551905	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:100551905G>A	ENST00000319509.7	+	1	656	c.656G>A	c.(655-657)gGa>gAa	p.G219E						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCACTAGGGGAAGTACGTCT	0.428000													98	644					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014449	53014449	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:53014449G>A	ENST00000421239.2	+	6	1059	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AATGAGAAGCGATACCTTGCA	0.368000													56	197					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222873	27222873	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:27222873G>A	ENST00000230582.3	+	11	1454	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	PRSS16_ENST00000421826.2_Missense_Mutation_p.R223K|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	480					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCACCTGAGAGGCCCTCAGAC	0.512000													54	159					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140881291	140881291	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:140881291C>T	ENST00000371372.1	+	15	2104	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	CACNA1B_ENST00000371363.1_Silent_p.I653I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.I653I|CACNA1B_ENST00000371355.4_Silent_p.I654I|CACNA1B_ENST00000371357.1_Silent_p.I654I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	653					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGCCGCCATCCTCACTGTCT	0.602000													79	225					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311437	48311437	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:48311437T>A	ENST00000435803.1	+	17	2198	c.2174T>A	c.(2173-2175)cTt>cAt	p.L725H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	725					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCACACCCTTGAGGATGAA	0.289000													7	7					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107300035	107300035	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:107300035A>C	ENST00000282251.5	-	8	950	c.923T>G	c.(922-924)gTa>gGa	p.V308G	CWF19L2_ENST00000433523.1_Missense_Mutation_p.V308G	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	308							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACCATATTTTACTAAGTCTGA	0.348000													10	18					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5424294	5424294	+	Silent	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:5424294T>A	ENST00000262467.5	-	14	4407	c.3834A>T	c.(3832-3834)cgA>cgT	p.R1278R	NLRP1_ENST00000354411.3_Silent_p.R1244R|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000572272.1_Silent_p.R1274R|NLRP1_ENST00000345221.3_Intron	NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1274					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTTGTGGATTCGCACAAACT	0.488000													10	11					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513613	99513613	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:99513613G>A	ENST00000261037.3	+	5	1248	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G290R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	290	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGAAAGCCAGGGGCTCCAGG	0.657000													23	58					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84485667	84485667	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:84485667G>A	ENST00000416219.2	+	18	1890	c.1801G>A	c.(1801-1803)Ggg>Agg	p.G601R	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G601R			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	601					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G601R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATGATAACGGGGGATGCCCT	0.582000													21	76					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18491603	18491603	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:18491603C>T	ENST00000336714.3	+	2	556	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	SEC23B_ENST00000262544.2_Missense_Mutation_p.L42F|SEC23B_ENST00000377465.1_Missense_Mutation_p.L42F|SEC23B_ENST00000377475.3_Missense_Mutation_p.L42F	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	42					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGCTTGTCTCCTTACTCCTTT	0.502000													48	104					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77283278	77283278	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:77283278C>T	ENST00000388914.3	-	12	2173		c.e12+1			NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158											breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AAGCAACATACCTGAAAGATT	0.408000													13	46					0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93299188	93299188	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:93299188C>T	ENST00000370321.3	+	3	250	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	54					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			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)		GATGATAGTTCGTGTGACAAA	0.358000													11	54					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889332	34889332	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:34889332G>A	ENST00000381831.3	-	16	2334	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	GART_ENST00000381815.4_Missense_Mutation_p.P691S|GART_ENST00000381839.3_Missense_Mutation_p.P691S|GART_ENST00000543717.1_Missense_Mutation_p.P243S	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	691	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGGACTCTGGGGATGTTCTCT	0.438000													36	97					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21904191	21904191	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:21904191G>A	ENST00000328843.6	+	71	11464	c.11433G>A	c.(11431-11433)ttG>ttA	p.L3811L	DNAH11_ENST00000409508.3_Silent_p.L3804L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3811					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTGAATTGGATTTCCTGC	0.383000									Kartagener syndrome				55	52					0	0	1	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632748	28632748	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:28632748G>A	ENST00000526619.2	+	14	1689	c.673_splice	c.e14-1	p.G225_splice	GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000450328.2_Splice_Site_p.G221_splice|GOLGA8F_ENST00000532622.2_Splice_Site_p.G439_splice																lung(4)	4						CCACCCCCAGGAGATGGAGGA	0.622000													10	56					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103188701	103188701	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:103188701A>T	ENST00000424970.2	-	8	1494	c.1179T>A	c.(1177-1179)aaT>aaA	p.N393K	SLC39A8_ENST00000356736.4_Missense_Mutation_p.N393K|SLC39A8_ENST00000394833.2_Missense_Mutation_p.N393K	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	393						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CAAATATAATATTTGGAGCGA	0.373000													30	53					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55866937	55866937	+	Missense_Mutation	SNP	G	G	A	rs116258771	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:55866937G>A	ENST00000422046.2	-	1	312	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	CES1_ENST00000361503.4_Missense_Mutation_p.L11F|CES1_ENST00000360526.3_Missense_Mutation_p.L11F			P23141	EST1_HUMAN	carboxylesterase 1	11					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GAAGCAGAGAGAGTGGCCAGG	0.582000													21	72					0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10626840	10626840	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:10626840G>A	ENST00000359543.3	-	5	635	c.426C>T	c.(424-426)tcC>tcT	p.S142S	EMP2_ENST00000536829.1_Silent_p.S142S	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	142					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCAGGATGTAGGAGTAGCCGT	0.527000													37	85					0	0	1	0	0
HOXD8	3234	broad.mit.edu	37	2	176995396	176995396	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:176995396C>T	ENST00000313173.4	+	1	929	c.302C>T	c.(301-303)cCg>cTg	p.P101L	HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.P101L|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.P101L	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	101					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGGGGCAGCCCGGCCGCTGCC	0.796000													30	57					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154746077	154746077	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:154746077G>A	ENST00000404141.1	-	16	2863	c.2709C>T	c.(2707-2709)ctC>ctT	p.L903L	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.L903L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	903	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGCTGGCAATGAGGTGTGTGC	0.502000													36	42					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10467247	10467247	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:10467247G>A	ENST00000525621.1	-	18	3095	c.2614C>T	c.(2614-2616)Cac>Tac	p.H872Y	TYK2_ENST00000524462.1_Missense_Mutation_p.H687Y|TYK2_ENST00000264818.6_Missense_Mutation_p.H872Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	872	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGCTCACTGTGGGGCTGCAGC	0.632000													15	15					0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68330389	68330389	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:68330389G>A	ENST00000566454.1	+	10	1511	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	SLC7A6_ENST00000219343.6_Silent_p.K414K	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	414					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TCCGCTGGAAGGAGCCCAAGC	0.577000													48	119					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419236	130419236	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:130419236C>T	ENST00000370904.1	-	11	1467	c.557G>A	c.(556-558)gGg>gAg	p.G186E	IGSF1_ENST00000370900.1_Missense_Mutation_p.G195E|IGSF1_ENST00000370903.3_Missense_Mutation_p.G195E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G186E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G195E|IGSF1_ENST00000370901.4_Missense_Mutation_p.G195E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	195	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATGTAAACCCCTTCATCCTC	0.532000													46	41					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1145057	1145057	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:1145057C>T	ENST00000335877.6	+	6	877	c.701C>T	c.(700-702)cCa>cTa	p.P234L	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.P146L|PSMF1_ENST00000438768.2_Missense_Mutation_p.P172L|PSMF1_ENST00000333082.3_Missense_Mutation_p.P234L|PSMF1_ENST00000246015.4_Missense_Mutation_p.P234L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	234	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CGACTTCCTCCAGGCGCTGTG	0.597000													99	222					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668894	53668894	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:53668894G>A	ENST00000600412.1	-	2	769	c.654C>T	c.(652-654)atC>atT	p.I218I	ZNF665_ENST00000396424.3_Silent_p.I283I			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCCAGTATGGATGACCTGAT	0.408000													41	174					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364301	103364301	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:103364301C>T	ENST00000358392.2	-	56	4522	c.4205G>A	c.(4204-4206)gGa>gAa	p.G1402E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1351E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1274E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1390E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1390	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCGGTTTTTCCAGGAGGACC	0.473000													29	39					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103019770	103019770	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:103019770G>A	ENST00000306312.3	-	16	1858	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	SLC26A5_ENST00000393723.1_Missense_Mutation_p.P501S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P501S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P533S|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P533S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.P496S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P501S|SLC26A5_ENST00000393735.2_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	533	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTTATTCCAGGAATTTCTTTC	0.313000													7	26					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948347	89948347	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:89948347G>A	ENST00000405460.2	+	19	3697	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1201	Calx-beta 9.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAATTCAATGAATTTTATTT	0.294000													14	8					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096131	167096131	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:167096131C>T	ENST00000361200.2	+	6	1929	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V	DUSP27_ENST00000443333.1_Missense_Mutation_p.A588V|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.A588V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	588					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCTGACAGCCTACCAGGCC	0.602000													18	52					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613318	39613318	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:39613318C>T	ENST00000265708.4	-	16	1829	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Missense_Mutation_p.E420K|ADAM2_ENST00000347580.4_Missense_Mutation_p.E557K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	576	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGGCAAATTCCACAGCAATG	0.333000													21	47					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753301	45753301	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:45753301G>A	ENST00000297323.7	+	20	3089	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1023					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGTGACTGAGGAAGTCCACCG	0.522000													25	57					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8484167	8484167	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:8484167C>T	ENST00000381196.4	-	27	3908	c.3365G>A	c.(3364-3366)gGc>gAc	p.G1122D	PTPRD_ENST00000486161.1_Missense_Mutation_p.G711D|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1122D|PTPRD_ENST00000355233.5_Missense_Mutation_p.G711D|PTPRD_ENST00000397606.3_Missense_Mutation_p.G701D|PTPRD_ENST00000397611.3_Missense_Mutation_p.G708D|PTPRD_ENST00000397617.3_Missense_Mutation_p.G701D|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1122D|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1109D|PTPRD_ENST00000537002.1_Missense_Mutation_p.G708D|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1100D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1122					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTAATCATGCCATCCAAGTT	0.458000										TSP Lung(15;0.13)			34	45					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014134	127014134	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:127014134G>A	ENST00000393313.1	-	5	1847	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	ZNF800_ENST00000265827.3_Missense_Mutation_p.S419L|ZNF800_ENST00000393312.1_Missense_Mutation_p.S419L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGAAGGGGGTGAAGATTCTAC	0.353000													22	59					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29462581	29462581	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:29462581G>A	ENST00000389048.3	-	13	3226	c.2320C>T	c.(2320-2322)Ctg>Ttg	p.L774L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	774					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGCCCAACCAGGATGTACAGC	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				20	67					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76760597	76760597	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:76760597A>C	ENST00000296679.4	-	3	580	c.205T>G	c.(205-207)Tgg>Ggg	p.W69G	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Intron	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	69										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TGGGCATTCCACACAACTACA	0.348000													9	15					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233511	43233511	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:43233511C>T	ENST00000327495.5	-	5	1191	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	PSG3_ENST00000595140.1_Missense_Mutation_p.R336K	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	336	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGGGTAAATTCTGGGGAGGTC	0.478000													142	211					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818462	214818462	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:214818462C>T	ENST00000366955.3	+	13	5717	c.5549C>T	c.(5548-5550)tCt>tTt	p.S1850F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1946					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAATATTTTTCTTGTGATCAC	0.338000													11	36					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777296	47777296	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:47777296C>T	ENST00000398545.4	-	5	945	c.828G>A	c.(826-828)aaG>aaA	p.K276K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	276										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CCTTCTGTTTCTTTAGCATAT	0.383000													42	127					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348195	7348195	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:7348195G>A	ENST00000486284.1	+	4	1163	c.889G>A	c.(889-891)Gca>Aca	p.A297T	GRM7_ENST00000403881.1_Missense_Mutation_p.A297T|GRM7_ENST00000357716.4_Missense_Mutation_p.A297T|GRM7_ENST00000389336.4_Missense_Mutation_p.A297T|GRM7_ENST00000402647.2_Missense_Mutation_p.A297T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	297					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAGATCCTTGCAGCAGCCAA	0.438000													4	96					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17911434	17911434	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:17911434G>A	ENST00000458468.1	+	0	579				MIR99A_ENST00000384906.1_RNA	NR_027790.1																						CCGTAGATCCGATCTTGTGGT	0.413000													17	27					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044940	33044940	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:33044940G>A	ENST00000242209.4	+	10	1859	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	FKBP9_ENST00000538336.1_Missense_Mutation_p.E617K|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.E332K|FKBP9_ENST00000538443.1_Missense_Mutation_p.E426K	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	564	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CAAAGACCAGGAAGCCAAACA	0.512000													16	59					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044939	33044939	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:33044939G>A	ENST00000242209.4	+	10	1858	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	FKBP9_ENST00000538336.1_Silent_p.Q616Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.Q331Q|FKBP9_ENST00000538443.1_Silent_p.Q425Q	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	563	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TCAAAGACCAGGAAGCCAAAC	0.512000													15	59					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159181713	159181713	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:159181713G>A	ENST00000297239.9	+	14	1544	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	SYTL3_ENST00000367081.3_Silent_p.E176E|SYTL3_ENST00000360448.3_Silent_p.E382E			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	450					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GTAATGGAGAGCTCACAGTCC	0.557000													18	87					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145616618	145616618	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:145616618C>T	ENST00000308860.6	+	7	786	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	248	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTGGAGCTCCTGCTGCGGCT	0.637000													21	23					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179668	90179668	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:90179668C>T	ENST00000370454.4	+	3	1794	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	513						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGTATGGGCTCCGAAATCTGG	0.478000													38	58					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702224	81702224	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:81702224C>T	ENST00000372292.3	-	4	393	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	118	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTTCTCTTCCAGCTGGACC	0.592000													26	30					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:72634141G>A	ENST00000273951.8	-	3	481	c.138C>T	c.(136-138)gtC>gtT	p.V46V	GC_ENST00000504199.1_Silent_p.V65V|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.V46V	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000													10	47					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379295	127379295	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:127379295C>T	ENST00000342480.6	+	3	463	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	142					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCTGCCAAACCTCCCCTCTCC	0.498000													29	43					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433547	69433547	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:69433547A>T	ENST00000317746.2	-	1	698	c.656T>A	c.(655-657)cTt>cAt	p.L219H		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	219					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GTCAAAATAAAGCATATATAT	0.343000													69	150					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110257957	110257957	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:110257957C>G	ENST00000369813.1	+	5	1444	c.539C>G	c.(538-540)tCg>tGg	p.S180W	GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	aagaataactcgtatgtattg	0.448000													20	29					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678439	42678439	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:42678439G>A	ENST00000397163.3	+	3	673	c.454G>A	c.(454-456)Gat>Aat	p.D152N	CAPN3_ENST00000349748.3_Missense_Mutation_p.D152N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.D152N|CAPN3_ENST00000356316.3_Missense_Mutation_p.D65N|CAPN3_ENST00000318023.7_Missense_Mutation_p.D152N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	152	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATACCCCATGATCAAAGTTT	0.557000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	132					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176175769	176175769	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:176175769G>A	ENST00000367669.3	-	1	860	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F	RFWD2_ENST00000308769.8_Missense_Mutation_p.L116F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	116					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGGGGGCGAGGAGAGGTCGC	0.632000													19	54					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101697	3101697	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:3101697G>A	ENST00000381951.1	+	1	885	c.885G>A	c.(883-885)atG>atA	p.M295I		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATTGGGATATGAAGGCAGCCC	0.448000													46	73					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50341362	50341362	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:50341362C>T	ENST00000376020.2	-	8	4141	c.4116G>A	c.(4114-4116)ctG>ctA	p.L1372L	SHROOM4_ENST00000460112.3_Silent_p.L1256L|SHROOM4_ENST00000289292.7_Silent_p.L1372L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1372	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCACTTTGTCCAGGTCCCCAA	0.512000													14	18					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27014416	27014416	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:27014416C>T	ENST00000314616.6	+	23	3216	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A978V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	978					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CGTGCCATTGCCCACCCTTAC	0.522000													25	24					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576630	33576630	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:33576630C>T	ENST00000504830.1	-	19	3836	c.3501G>A	c.(3499-3501)gaG>gaA	p.E1167E	ADAMTS12_ENST00000352040.3_Silent_p.E1082E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1167	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCTTTGTCCTCAGGCTGTT	0.458000										HNSCC(64;0.19)			25	89					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34243604	34243604	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:34243604C>T	ENST00000346562.2	+	7	892	c.818C>T	c.(817-819)cCc>cTc	p.P273L	NPAS3_ENST00000356141.4_Missense_Mutation_p.P305L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P292L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P310L|NPAS3_ENST00000548645.1_Missense_Mutation_p.P275L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGGACCGTCCCCAGCCAAATC	0.502000													30	92					0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6760498	6760498	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:6760498C>T	ENST00000341550.4	-	7	745	c.699G>A	c.(697-699)cgG>cgA	p.R233R	ING4_ENST00000396807.4_Silent_p.R234R|ING4_ENST00000486287.1_5'UTR|ING4_ENST00000423703.2_3'UTR|ING4_ENST00000444704.2_Silent_p.R210R|ING4_ENST00000446105.2_Silent_p.R230R|ING4_ENST00000412586.2_Silent_p.R231R			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	234					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						ACCATTTCCCCCGAGGCTTGG	0.527000													23	82					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157903587	157903587	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:157903587C>T	ENST00000409483.1	-	9	1581	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	PTPRN2_ENST00000389418.4_Missense_Mutation_p.G526E|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G549E|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G509E			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	526						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGCCGCCTTCCTTCCTCGGG	0.662000													5	4					0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434875	1434875	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:1434875C>T	ENST00000233078.4	+	12	1349	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	396					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGCAGAACCACAACGTGC	0.687000													6	10					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214354804	214354804	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:214354804C>T	ENST00000331683.5	+	10	1155	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P260S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	354					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CCATGAACTTCCAGTGAGCTG	0.318000													8	18					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152268	43152268	+	Missense_Mutation	SNP	G	G	A	rs149552080		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:43152268G>A	ENST00000252050.4	+	2	304	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CUL9_ENST00000354495.3_Missense_Mutation_p.A74T|CUL9_ENST00000372647.2_Missense_Mutation_p.A74T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	74					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGAGGTCTACGCCAACTGCCC	0.577000													4	142					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268617	28268617	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:28268617C>T	ENST00000405948.2	+	7	1406	c.986C>T	c.(985-987)tCa>tTa	p.S329L	PGBD1_ENST00000259883.3_Missense_Mutation_p.S329L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	329					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGCACATCTCATCCCTGGAA	0.483000													25	55					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803263	144803263	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:144803263C>T	ENST00000338033.4	+	10	1130	c.1011C>T	c.(1009-1011)agC>agT	p.S337S		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	337					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTACCGCAGCCGCGTCTATC	0.657000													14	30					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128183787	128183787	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:128183787G>A	ENST00000453608.2	+	6	835	c.827G>A	c.(826-828)gGa>gAa	p.G276E	PROC_ENST00000234071.3_Missense_Mutation_p.G221E|PROC_ENST00000422777.3_Missense_Mutation_p.G221E|PROC_ENST00000409048.1_Missense_Mutation_p.G255E			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	221	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACCAGGCGGGGAGACAGCCCC	0.602000													50	87					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188210940	188210940	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:188210940G>A	ENST00000409998.1	-	16	2138	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.L453F|CALCRL_ENST00000392370.3_Missense_Mutation_p.L453F			Q16602	CALRL_HUMAN	calcitonin receptor-like	453						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGTTTTAAGAGAACATTTTCA	0.368000													3	21					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469606	98469606	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:98469606C>T	ENST00000339364.5	-	2	267	c.148G>A	c.(148-150)Gag>Aag	p.E50K		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	50						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AAGGAGGCCTCGGGGCCCAGC	0.642000													29	55					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121032932	121032932	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:121032932G>A	ENST00000392793.1	+	16	5396	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	TECTA_ENST00000264037.2_Missense_Mutation_p.D1709N			O75443	TECTA_HUMAN	tectorin alpha	1709					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGGCTTCTCGATCCCCTCCC	0.597000													35	70					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296450	238296450	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:238296450G>A	ENST00000295550.4	-	4	1539	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.R363C|COL6A3_ENST00000392004.3_Missense_Mutation_p.R157C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R157C|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.R157C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	363	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCCCGTAGCGAATCTCGTCA	0.627000													15	34					0	0	1	0	0
PRDM12	59335	broad.mit.edu	37	9	133543638	133543638	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:133543638G>A	ENST00000253008.2	+	3	568	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	170	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E170K(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGCACGTAACGAACAGGAGCA	0.562000													29	76					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40588573	40588573	+	Silent	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:40588573T>C	ENST00000324817.1	-	2	358	c.240A>G	c.(238-240)gaA>gaG	p.E80E		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	80					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATACTCACCTTTCCACATCAG	0.363000													3	17					0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54283525	54283525	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:54283525G>A	ENST00000217515.6	-	5	717	c.513C>T	c.(511-513)ttC>ttT	p.F171F	TXNL1_ENST00000540155.1_Silent_p.F48F|TXNL1_ENST00000590954.1_Silent_p.F171F	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	171	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CAGGTTGATTGAATGCCACAG	0.348000													12	26					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48732560	48732560	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:48732560G>A	ENST00000431721.2	-	3	567	c.330C>T	c.(328-330)ctC>ctT	p.L110L	IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000453202.1_Silent_p.L55L|IP6K2_ENST00000450045.1_Silent_p.L109L|IP6K2_ENST00000449610.1_Silent_p.L55L|IP6K2_ENST00000443964.1_Silent_p.L114L|IP6K2_ENST00000340879.4_Silent_p.L55L|IP6K2_ENST00000413298.1_Silent_p.L55L|IP6K2_ENST00000432678.2_Silent_p.L55L|IP6K2_ENST00000446860.1_Silent_p.L113L|IP6K2_ENST00000417896.1_Silent_p.L55L|IP6K2_ENST00000328631.5_Silent_p.L55L	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	55					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCTCAGCAGGGAGGGTCTCGT	0.582000													36	100					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498118	220498118	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:220498118C>T	ENST00000358055.3	+	10	1912	c.1400C>T	c.(1399-1401)aCc>aTc	p.T467I	SLC4A3_ENST00000317151.3_Missense_Mutation_p.T467I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T494I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.T494I|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T467I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	467					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGTGCCTACCATGGCTGAT	0.617000													28	73					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17434262	17434262	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:17434262C>T	ENST00000302539.4	-	21	2635	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.R836Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	836	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACTGATTCGCTGGCGTTG	0.582000													3	13					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854740	4854740	+	Missense_Mutation	SNP	G	G	A	rs71579265	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:4854740G>A	ENST00000252318.2	+	5	1343	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	336						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTGCCGCTACGATGCACTGCC	0.483000													16	46					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151015839	151015839	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151015839C>T	ENST00000295294.7	+	6	1011	c.402C>T	c.(400-402)atC>atT	p.I134I	BNIPL_ENST00000368931.3_Silent_p.I216I	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	216					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCTGTCATCCTTTTTGCTT	0.443000													107	239					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614484	135614484	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:135614484G>A	ENST00000520727.1	-	7	1741	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	ZFAT_ENST00000523399.1_Missense_Mutation_p.S431F|ZFAT_ENST00000377838.3_Missense_Mutation_p.S493F|ZFAT_ENST00000520356.1_Missense_Mutation_p.S481F|ZFAT_ENST00000520214.1_Missense_Mutation_p.S481F|ZFAT_ENST00000429442.2_Missense_Mutation_p.S481F	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGGTTGATGGAACTGGTGAA	0.602000													16	36					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820625	26820625	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:26820625G>A	ENST00000444914.3	+	7	1482	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	SLC13A2_ENST00000314669.5_Silent_p.Q305Q|SLC13A2_ENST00000545060.1_Silent_p.Q262Q|SLC13A2_ENST00000537681.1_Silent_p.Q234Q	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	305						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAAAGATGCAGGAGCAACAGC	0.607000													13	15					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115345609	115345609	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:115345609G>C	ENST00000351270.3	+	12	1526	c.1430G>C	c.(1429-1431)tGc>tCc	p.C477S	HABP2_ENST00000542051.1_Missense_Mutation_p.C451S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	477	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AACACTTTGTGCAACTCCCGC	0.522000													20	27					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481464	159481464	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:159481464C>T	ENST00000389757.3	+	7	803	c.678C>T	c.(676-678)atC>atT	p.I226I	PKP4_ENST00000389759.3_Silent_p.I226I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	226					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CTTATGTTATCAGCACAGGCG	0.522000										HNSCC(62;0.18)			41	101					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152336	117152336	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:117152336C>T	ENST00000530849.1	+	9	802	c.792C>T	c.(790-792)atC>atT	p.I264I	RNF214_ENST00000531287.1_Silent_p.I264I|RNF214_ENST00000300650.4_Silent_p.I419I|RNF214_ENST00000531452.1_Silent_p.I419I|RNF214_ENST00000524917.1_3'UTR			Q8ND24	RN214_HUMAN	ring finger protein 214	419							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		ATAGTCATATCCAGTTAGTGA	0.448000													56	214					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145748789	145748789	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:145748789G>C	ENST00000529415.2	-	5	729	c.612C>G	c.(610-612)aaC>aaG	p.N204K	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.N201K|LRRC14_ENST00000528528.1_Intron			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	204	LRRCT.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	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)			AGCGCCATGGGTTCTCTGTGG	0.622000													11	34					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545520	196545520	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:196545520C>T	ENST00000409086.3	+	2	1029	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	SLC39A10_ENST00000359634.5_Missense_Mutation_p.P252S|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	252					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACCAGGTTTTCCCCCTAACCA	0.413000													18	57					0	0	1	0	0
URAD	646625	broad.mit.edu	37	13	28552275	28552275	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:28552275C>T	ENST00000332715.4	-	2	489	c.490G>A	c.(490-492)Gac>Aac	p.D164N		NM_001105577.1	NP_001099047.1			ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase																		CGGAGGAGGTCGGCCAGGCGC	0.766000													5	10					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176824	49176824	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:49176824G>A	ENST00000307885.4	-	1	1088	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	ADCY6_ENST00000357869.3_Missense_Mutation_p.R132C|ADCY6_ENST00000550422.1_Missense_Mutation_p.R132C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	132					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.R132C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGGCCGAACGGAACTGCTTC	0.667000													31	78					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73164121	73164121	+	Silent	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:73164121T>C	ENST00000286657.4	-	18	2499	c.2463A>G	c.(2461-2463)acA>acG	p.T821T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	821	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTACTTATATGTCAGGCTAG	0.358000													35	76					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44495982	44495982	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:44495982C>T	ENST00000338758.6	+	3	315	c.252C>T	c.(250-252)ccC>ccT	p.P84P	PARVB_ENST00000404989.1_Silent_p.P47P|PARVB_ENST00000402876.3_Silent_p.P84P|PARVB_ENST00000406477.3_Silent_p.P117P	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	84					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				AGGAAGACCCCAAGTTCAAGG	0.552000													26	69					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112776	168112776	+	Silent	SNP	G	G	A	rs142117627		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:168112776G>A	ENST00000519560.1	-	31	3890	c.3471C>T	c.(3469-3471)ctC>ctT	p.L1157L	SLIT3_ENST00000404867.3_Silent_p.L1157L|SLIT3_ENST00000332966.8_Silent_p.L1164L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1157					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACAGTGATGAGCTTCTCGC	0.652000													20	34					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43545011	43545011	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:43545011A>G	ENST00000220420.5	-	6	815	c.808T>C	c.(808-810)Tgc>Cgc	p.C270R	TGM5_ENST00000349114.4_Missense_Mutation_p.C188R	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	270					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACGGGCTGGCAGCCTGTGGCG	0.592000													36	99					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11369717	11369717	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:11369717T>A	ENST00000435245.2	-	2	502	c.393A>T	c.(391-393)aaA>aaT	p.K131N	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_3'UTR			P04554	PRM2_HUMAN	protamine 2	0					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TCGGGCGACTTTTTCTTAATT	0.502000													13	31					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247572	247572	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:247572C>A	ENST00000538872.1	+	4	1161	c.1043C>A	c.(1042-1044)cCa>cAa	p.P348Q	IQSEC3_ENST00000326261.4_Missense_Mutation_p.P348Q|IQSEC3_ENST00000382841.2_Missense_Mutation_p.P45Q|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	348					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGCCGCCTGCCACGGCGGATC	0.667000													10	31					0.00621372	0.00622779	1	1	0
GGT7	2686	broad.mit.edu	37	20	33451239	33451239	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:33451239G>A	ENST00000336431.5	-	2	326	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	94					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCGCTGCGGCGGAGAACGGGT	0.677000													18	35					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508003	37508003	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:37508003G>A	ENST00000374660.1	+	40	3651	c.3552G>A	c.(3550-3552)ctG>ctA	p.L1184L	ANKRD30A_ENST00000361713.1_Silent_p.L1065L|ANKRD30A_ENST00000602533.1_Silent_p.L1065L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGCCACACTGAAACACCAAT	0.323000													31	48					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27614140	27614140	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:27614140C>T	ENST00000225388.4	-	2	930	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	291						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGGTTTTCCTCGACTTGTTCC	0.453000													47	46					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75435104	75435104	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:75435104G>A	ENST00000443782.2	-	7	1370	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	AGAP5_ENST00000374094.4_Silent_p.I438I|RP11-464F9.1_ENST00000399449.3_RNA			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	438	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TCTGGCTCTGGATGGCTTGGA	0.557000													40	55					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86185512	86185512	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:86185512T>G	ENST00000224756.8	+	5	1916	c.1731T>G	c.(1729-1731)ttT>ttG	p.F577L	CCSER2_ENST00000543283.1_Missense_Mutation_p.F4L|CCSER2_ENST00000372088.2_Missense_Mutation_p.F577L|CCSER2_ENST00000494144.1_3'UTR	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TGAACCGCTTTGACCGACCAG	0.448000													23	24					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													33	460					0	0	1	0	0
BCL2L14	79370	broad.mit.edu	37	12	12247633	12247633	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:12247633G>A	ENST00000586576.1	+	7	961	c.813G>A	c.(811-813)caG>caA	p.Q271Q	BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000396367.1_Silent_p.Q238Q|BCL2L14_ENST00000589718.1_Silent_p.Q238Q|BCL2L14_ENST00000266434.4_3'UTR|BCL2L14_ENST00000308721.5_Silent_p.Q238Q			Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	238					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCCACTTCCAGGATGGGCTGT	0.493000													38	95					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499933	104499933	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:104499933G>A	ENST00000361820.3	-	1	929	c.329C>T	c.(328-330)tCc>tTc	p.S110F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	110					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGCTTACGGGAGCCCGGCGG	0.746000													16	19					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966851	25966851	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:25966851G>A	ENST00000435504.4	-	13	2648	c.2355C>T	c.(2353-2355)gtC>gtT	p.V785V	ASXL2_ENST00000404843.1_Silent_p.V525V|ASXL2_ENST00000336112.4_Silent_p.V757V|ASXL2_ENST00000272341.4_Silent_p.V525V			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCTCCACTGACGGCAGGTG	0.552000													30	100					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7415147	7415147	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:7415147C>T	ENST00000322644.6	+	25	4518	c.4119C>T	c.(4117-4119)gcC>gcT	p.A1373A		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1373					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCATTGAAGCCGTGCGGAAGG	0.587000													22	47					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918442	154918442	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:154918442G>A	ENST00000368463.3	-	10	1779	c.1708C>T	c.(1708-1710)Ccc>Tcc	p.P570S	PBXIP1_ENST00000368465.1_Missense_Mutation_p.P541S|PBXIP1_ENST00000539880.1_Missense_Mutation_p.P397S|PBXIP1_ENST00000542459.1_Missense_Mutation_p.P415S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	570					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GATGGCAGGGGGTCATGGCTG	0.617000													71	134					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19609482	19609482	+	Silent	SNP	C	C	T	rs147825029		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:19609482C>T	ENST00000404158.1	+	10	1573	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	GATAD2A_ENST00000360315.3_Silent_p.I385I|GATAD2A_ENST00000429563.2_Silent_p.I212I|GATAD2A_ENST00000252577.5_Silent_p.I385I|GATAD2A_ENST00000537887.1_Silent_p.I13I|GATAD2A_ENST00000358713.3_Silent_p.I385I			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	385					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ACGAGTTCATCTACCTGGTCG	0.632000													22	28					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175744	159175744	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:159175744G>A	ENST00000537147.1	+	3	1358	c.515G>A	c.(514-516)gGa>gAa	p.G172E	DARC_ENST00000368121.2_Missense_Mutation_p.G174E|DARC_ENST00000368122.2_Missense_Mutation_p.G172E			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	172					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCACTGTGGGAATTTGGGGA	0.627000													10	37					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20322509	20322509	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:20322509C>T	ENST00000245957.5	+	26	3533	c.3457C>T	c.(3457-3459)Cac>Tac	p.H1153Y	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1153										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGCCCTGTTCCACGATCGTTT	0.438000													11	33					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155307494	155307494	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:155307494C>T	ENST00000368346.3	-	28	9506	c.8867G>A	c.(8866-8868)cGa>cAa	p.R2956Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2951Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2956					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTACGCCTTCGCAGTTTCCT	0.463000													62	151					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904235	5904235	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:5904235A>C	ENST00000378961.4	+	4	1649	c.1445A>C	c.(1444-1446)aAg>aCg	p.K482T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	482						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCCCCAGGGAAGTGGCAGCAG	0.498000													43	88					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136036	74136036	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:74136036G>A	ENST00000322957.6	-	2	795	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	147					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCACTTGTAGATGGCCGACA	0.627000													29	27					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140312	94140312	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:94140312G>A	ENST00000370244.1	-	4	463	c.175C>T	c.(175-177)Cct>Tct	p.P59S	BCAR3_ENST00000370243.1_Missense_Mutation_p.P59S|BCAR3_ENST00000260502.6_Missense_Mutation_p.P59S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	59					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTTATGGGAGGAGGACCTTTT	0.567000													26	30					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55108183	55108183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:55108183C>T	ENST00000474759.1	+	38	3274	c.3226C>T	c.(3226-3228)Cag>Tag	p.Q1076*	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.Q1076*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.Q982*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.Q1076*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1076						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCTCCAAGCCCAGACAGTCCT	0.517000													37	96					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172325474	172325474	+	Silent	SNP	C	C	T	rs146745875		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:172325474C>T	ENST00000375255.3	+	9	1242	c.915C>T	c.(913-915)atC>atT	p.I305I	DCAF17_ENST00000539783.1_Silent_p.I305I|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	305						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGCACTACATCGTCACACCTA	0.413000													25	70					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910858	59910858	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:59910858G>A	ENST00000396065.1	+	3	869	c.421G>A	c.(421-423)Gag>Aag	p.E141K	GCNT3_ENST00000560585.1_Missense_Mutation_p.E141K	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	141					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGATTCATGAGAAGATTGA	0.443000													25	91					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15382650	15382650	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:15382650G>A	ENST00000376030.2	+	5	1084	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	KAZN_ENST00000400798.2_Missense_Mutation_p.G170S|KAZN_ENST00000400797.3_Missense_Mutation_p.G170S|KAZN_ENST00000422387.2_Missense_Mutation_p.G264S|KAZN_ENST00000503743.1_Missense_Mutation_p.G264S|KAZN_ENST00000361144.5_Missense_Mutation_p.G258S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	264	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CGCCATGCCGGGCGAGACGGT	0.597000													47	76					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477336	128477336	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:128477336G>A	ENST00000322313.4	-	16	2421	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	755	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATCCCATGAGGATGAGGAGGC	0.622000													29	71					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129275239	129275239	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:129275239G>A	ENST00000324093.4	-	36	5872	c.5694C>T	c.(5692-5694)gcC>gcT	p.A1898A	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Intron	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1898					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTGTCCTCCGGGCCGTGGGGT	0.612000													40	131					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737771	24737771	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:24737771G>A	ENST00000399409.3	-	9	1438	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RABGGTA_ENST00000216840.6_Missense_Mutation_p.R319C|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	319					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	p.R319C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CAAATGACGCGAAATGTATGT	0.537000													30	95					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53038684	53038684	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:53038684G>A	ENST00000276480.7	-	23	3366	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	895						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGCATTGAGAGGACATCCA	0.363000													30	75					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130649036	130649036	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:130649036G>A	ENST00000373146.1	-	7	1023	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.H248Y|ST6GALNAC6_ENST00000373142.1_Silent_p.T280T|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.H248Y|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.H282Y|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.H82Y			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	282					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCGTAGTAGTGGTAGGGCATG	0.632000													19	65					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324827	103324827	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:103324827C>T	ENST00000233969.2	+	12	2460	c.2318C>T	c.(2317-2319)tCt>tTt	p.S773F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	773						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAAGACCAGTCTGGCTCAGAG	0.612000													54	141					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84386806	84386806	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:84386806C>T	ENST00000260505.8	-	12	1705	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	443					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGTTCTTCTCGTGAGATCTG	0.323000													9	52					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30924654	30924654	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:30924654C>T	ENST00000298139.5	+	6	859	c.610C>T	c.(610-612)Cct>Tct	p.P204S		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	204	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAGTAAATTTCCTCTCACTGA	0.388000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				17	46					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919285	13919285	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13919285C>T	ENST00000265104.4	-	7	1079	c.975_splice	c.e7+1	p.K325_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	325	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCTGACGACCTTCAGCAGTT	0.413000									Kartagener syndrome				33	102					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973506	74973506	+	Missense_Mutation	SNP	C	C	T	rs61738014		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:74973506C>T	ENST00000261978.4	-	27	4314	c.3928G>A	c.(3928-3930)Gac>Aac	p.D1310N	LTBP2_ENST00000556690.1_Missense_Mutation_p.D1266N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1310	Cys-rich.|EGF-like 15; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACATGGTGTCGTTGGCGCAC	0.592000													19	33					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848500	73848500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:73848500C>T	ENST00000523207.1	+	3	1498	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	304					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAGATCTTCCGAATCATGCG	0.527000													23	65					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71755525	71755525	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:71755525G>A	ENST00000258104.3	+	13	1555	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	DYSF_ENST00000394120.2_Silent_p.G427G|DYSF_ENST00000409651.1_Silent_p.G458G|DYSF_ENST00000429174.2_Silent_p.G426G|DYSF_ENST00000409744.1_Silent_p.G427G|DYSF_ENST00000409762.1_Silent_p.G457G|DYSF_ENST00000410020.3_Silent_p.G458G|DYSF_ENST00000413539.2_Silent_p.G457G|DYSF_ENST00000409582.3_Silent_p.G457G|DYSF_ENST00000410041.1_Silent_p.G458G|DYSF_ENST00000409366.1_Silent_p.G427G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	426	C2 3.		G -> R (in MMD1).|G -> V (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTTTGCGGGGAAAATGGTAA	0.552000													9	26					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597349	74597349	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:74597349G>A	ENST00000361874.3	-	12	1568	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	DCTN1_ENST00000394003.3_Silent_p.S410S|DCTN1_ENST00000409240.1_Silent_p.S380S|DCTN1_ENST00000409438.1_Silent_p.S283S|DCTN1_ENST00000409868.1_Silent_p.S400S|DCTN1_ENST00000409567.3_Silent_p.S397S|DCTN1_ENST00000407639.2_Silent_p.S283S	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	417					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTCTGCCTGGCTTAGCTCCT	0.567000													34	63					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657874	143657874	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:143657874G>A	ENST00000392899.1	+	1	848	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGTCCTTCAGGAGAAGTTGTT	0.493000													30	46					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702403	225702403	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:225702403G>A	ENST00000366844.2	-	7	1564	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	ENAH_ENST00000284563.6_Silent_p.P618P|ENAH_ENST00000366843.2_Silent_p.P371P	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	371	Pro-rich.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ATGCAgggaggggtggggcag	0.582000													25	40					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44905706	44905706	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:44905706C>T	ENST00000261866.7	-	17	3083	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	SPG11_ENST00000558319.1_Missense_Mutation_p.E1023K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1023K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1023K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1023					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTTTTTTTCCAAAAAGGGA	0.333000													11	37					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129275238	129275238	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:129275238G>A	ENST00000324093.4	-	36	5873	c.5695C>T	c.(5695-5697)Cgg>Tgg	p.R1899W	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Intron	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1899					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGTGTCCTCCGGGCCGTGGGG	0.612000													43	133					0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94800813	94800813	+	RNA	SNP	C	C	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:94800813C>G	ENST00000529911.1	+	0	453					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										GTCCCAGCTGCTCCAGGTCCC	0.706000													10	15					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448462	89448462	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:89448462G>A	ENST00000399794.2	-	3	1763	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P350S|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	350	Ser-rich.						nucleotide binding|RNA binding										TCTACAGAAGGGGGAAGCCCT	0.532000													83	266					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31224874	31224874	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:31224874G>A	ENST00000269197.5	+	3	154	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCTCCATTAGCCTGTCTGAA	0.433000													3	3					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7546788	7546788	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:7546788G>A	ENST00000399429.3	-	10	1072	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	311	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGCCCTGGGGATCCCTGTGG	0.408000													49	63					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655274	3655274	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:3655274C>T	ENST00000356518.2	-	6	718	c.477G>A	c.(475-477)aaG>aaA	p.K159K	ADAM33_ENST00000379861.4_Silent_p.K159K|ADAM33_ENST00000350009.2_Silent_p.K159K	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	159					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGAGAAGTCCTTGGAGCCCC	0.612000													52	157					0	0	1	0	0
RNASE12	493901	broad.mit.edu	37	14	21058733	21058733	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:21058733G>A	ENST00000556526.1	-	1	249	c.150C>T	c.(148-150)atC>atT	p.I50I	AL163195.3_ENST00000555283.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	50						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CTCTTTGTATGATCATGTGGT	0.438000													37	88					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150580	117150580	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:117150580G>A	ENST00000369486.3	-	5	1971	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	IGSF3_ENST00000369483.1_Silent_p.I402I|IGSF3_ENST00000318837.6_Silent_p.I402I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	402	Ig-like C2-type 4.					integral to membrane		p.I402I(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAGGACTATGATGGGGATGT	0.502000													6	196					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168098385	168098385	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:168098385G>T	ENST00000409195.1	+	8	1230	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	XIRP2_ENST00000420519.1_Missense_Mutation_p.D414Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.D159Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D381Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.D414Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D159Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.D381Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D381Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	206					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTTTATTCTGACAAAGAGAT	0.368000													51	117					7.06795e-37	7.18981e-37	1	1	0
LRP2	4036	broad.mit.edu	37	2	170062890	170062890	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:170062890G>A	ENST00000263816.3	-	39	7625	c.7340C>T	c.(7339-7341)tCc>tTc	p.S2447F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2447					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTGGCATAGGAAATCTGTCC	0.443000													21	46					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	105					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386972	121386972	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:121386972G>A	ENST00000393667.3	-	19	9480	c.9370C>T	c.(9370-9372)Ccc>Tcc	p.P3124S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.P3114S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3114					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTCCTGGGGAGCTCCTGGA	0.453000													11	36					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40704410	40704410	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:40704410G>A	ENST00000253055.3	+	2	1099	c.811G>A	c.(811-813)Gcg>Acg	p.A271T	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	271	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCTGGATGGCGCCGGAGGT	0.632000													12	73					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222800959	222800959	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:222800959C>T	ENST00000344922.5	+	4	422	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	MIA3_ENST00000344441.6_Missense_Mutation_p.H133Y|MIA3_ENST00000344507.1_Missense_Mutation_p.H133Y|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	133					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGATGATTTTCATAATTATAA	0.348000													29	100					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30558470	30558470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:30558470C>T	ENST00000326195.8	+	25	2642	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	ABCF1_ENST00000396515.4_Nonsense_Mutation_p.R237*|ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R806*	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	844					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	p.R844R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGCCGGCCCCGAGAGTGAGC	0.567000													50	124					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248864	20248864	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:20248864G>A	ENST00000315957.4	+	1	464	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTATCTGCCGACCCCTCCAC	0.512000													82	158					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153131188	153131188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:153131188G>A	ENST00000370060.1	-	20	2707	c.2518C>T	c.(2518-2520)Cag>Tag	p.Q840*	L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q842*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q835*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q842*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q835*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q840*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q840*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	840	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTGACCTGGGCCAGGTCC	0.602000													92	68					0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71416661	71416661	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:71416661G>A	ENST00000302628.4	+	5	459	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	CALB2_ENST00000349553.5_Missense_Mutation_p.E128K	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	128	EF-hand 3.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGGCTACATCGAAGCCAATGA	0.547000													49	91					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748675	151748675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151748675G>A	ENST00000368822.1	-	8	1747	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	TDRKH_ENST00000368825.3_Nonsense_Mutation_p.R327*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.R368*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.R372*|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.R372*|TDRKH_ENST00000440583.2_Nonsense_Mutation_p.R148*			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	372	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGGGCTCGATACCAGGAA	0.507000													37	87					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270648	84270648	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:84270648G>A	ENST00000568181.1	-	2	564	c.444C>T	c.(442-444)gcC>gcT	p.A148A	KCNG4_ENST00000308251.4_Silent_p.A148A			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	148						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGCCCCAGTAGGCCAGCTCCT	0.672000													23	57					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831954	5831954	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:5831954A>T	ENST00000318336.4	-	3	1819	c.625T>A	c.(625-627)Tac>Aac	p.Y209N	FUT6_ENST00000592563.1_Missense_Mutation_p.Y209N|FUT6_ENST00000527106.1_Missense_Mutation_p.Y209N|FUT6_ENST00000286955.5_Missense_Mutation_p.Y209N|FUT6_ENST00000524754.1_Missense_Mutation_p.Y209N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	209					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGGCTCTGGTAGTAGCGCACC	0.657000													43	81					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64503038	64503038	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:64503038C>T	ENST00000377494.1	-	10	2194	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	RASGRP2_ENST00000354024.3_Silent_p.V424V|RASGRP2_ENST00000377497.3_Silent_p.V424V|RASGRP2_ENST00000394432.3_Silent_p.V424V			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	424					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGATGTGCTCCACCACGAGGG	0.657000													21	66					0	0	1	0	0
FAM131C	348487	broad.mit.edu	37	1	16386095	16386095	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:16386095G>A	ENST00000375662.4	-	6	639	c.456C>T	c.(454-456)gtC>gtT	p.V152V	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	152										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTCGGCGACCCCTGGGG	0.672000													36	33					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27329228	27329228	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:27329228G>A	ENST00000429845.2	-	21	2112	c.1750C>T	c.(1750-1752)Cat>Tat	p.H584Y	NEK10_ENST00000341435.5_Missense_Mutation_p.H584Y|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	584	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATGTTGGGATGATAAAGCTAT	0.269000													10	30					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513733	99513733	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:99513733C>T	ENST00000261037.3	+	5	1368	c.988C>T	c.(988-990)Cca>Tca	p.P330S	COL8A1_ENST00000273342.4_Missense_Mutation_p.P330S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	330	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCCAGGATTTCCAGGTGGCAA	0.632000													20	45					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26221300	26221300	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:26221300C>T	ENST00000380737.3	+	8	1195	c.866C>T	c.(865-867)tCg>tTg	p.S289L	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S299L	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TCCTCTATTTCGGATGTAAAA	0.363000													25	54					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394471	233394471	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:233394471C>T	ENST00000258229.8	-	5	1371	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	379						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGCTCATCGTGATAACAA	0.493000													48	106					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113316988	113316988	+	Silent	SNP	C	C	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:113316988C>A	ENST00000263331.5	+	9	2029	c.1449C>A	c.(1447-1449)acC>acA	p.T483T	POLR1B_ENST00000541869.1_Silent_p.T521T|POLR1B_ENST00000537335.1_Silent_p.T272T|POLR1B_ENST00000417433.2_Silent_p.T427T|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	483					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGATGAGGACCACCACAGTAC	0.572000													51	149					1.56793e-16	1.58403e-16	1	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20496663	20496663	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:20496663G>A	ENST00000555186.1	+	0	716					NR_038836.1																						AAAGCGCCCGGCTGTGTGTGC	0.433000													8	126					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658707	55658707	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:55658707G>A	ENST00000449290.2	+	7	1050	c.958G>A	c.(958-960)Gat>Aat	p.D320N	TRIM51_ENST00000244891.3_Missense_Mutation_p.D177N	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	320	B30.2/SPRY.					intracellular	zinc ion binding										AGATGATCCCGATATCACTGG	0.428000													49	97					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616347	248616347	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:248616347C>T	ENST00000342927.3	+	1	271	c.249C>T	c.(247-249)ctC>ctT	p.L83L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAAGATGCTCCAGGACCTCC	0.532000													22	244					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161402	2161402	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:2161402G>A	ENST00000262304.4	-	15	3974	c.3766C>T	c.(3766-3768)Ccg>Tcg	p.P1256S	PKD1_ENST00000423118.1_Missense_Mutation_p.P1256S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1256	PKD 7.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGCCTCCGGGCCCGACAGC	0.711000													21	21					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35433142	35433142	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:35433142G>A	ENST00000237536.4	-	10	3424	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	SOGA1_ENST00000456801.2_Missense_Mutation_p.S631F|SOGA1_ENST00000279034.5_Missense_Mutation_p.S790F|SOGA1_ENST00000357779.3_Missense_Mutation_p.S790F	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	790										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCTCACCTGGGAGGTATGGCC	0.592000													25	58					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18258322	18258322	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:18258322C>T	ENST00000262811.5	+	26	3282	c.3282C>T	c.(3280-3282)tcC>tcT	p.S1094S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1094	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCTTCTCCTCCGGACTCCACC	0.632000													6	8					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33565867	33565867	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:33565867C>T	ENST00000321505.4	+	1	2047	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P623S|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P623S					KIAA1549-like																		TTCTCAGCACCCCAAGAAATG	0.502000													41	97					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134969	128134969	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:128134969G>A	ENST00000368250.1	-	5	1078	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	THEMIS_ENST00000368248.2_Missense_Mutation_p.L273F|THEMIS_ENST00000543064.1_Missense_Mutation_p.L273F|THEMIS_ENST00000537166.1_Missense_Mutation_p.L238F			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	273	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATTTCAAAAAGATCTTCTGTT	0.423000													32	111					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_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						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								5	137					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108695270	108695270	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:108695270C>T	ENST00000218006.2	-	5	1745	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	485					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTAAGCAAATCCATTAATAGA	0.383000													20	15					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011144	141011144	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:141011144G>A	ENST00000508812.1	+	5	2420	c.513G>A	c.(511-513)ctG>ctA	p.L171L	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Silent_p.L180L|ACPL2_ENST00000502783.1_Silent_p.L142L|ACPL2_ENST00000504264.1_Silent_p.L163L|ACPL2_ENST00000393007.1_Silent_p.L164L|ACPL2_ENST00000286353.4_Silent_p.L180L			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	180						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GTCAGCTGCTGAGGGATATCT	0.478000													33	61					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76388601	76388601	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:76388601C>T	ENST00000262764.6	+	2	214	c.188C>T	c.(187-189)cCc>cTc	p.P63L	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	63					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCAGCTGTTCCCCAGGTCACC	0.522000													63	37					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122716903	122716903	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:122716903G>A	ENST00000267199.4	-	13	1793	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	RP11-512M8.5_ENST00000535844.1_Silent_p.L522L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	561					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGAAATCGCAGGGCAGCAATT	0.418000													62	119					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047490	11047490	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:11047490C>T	ENST00000470054.1	-	0	764									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTGCATTTCCAGCCGTTGG	0.358000													14	381					0	0	1	0	0
EGFL7	51162	broad.mit.edu	37	9	139563056	139563056	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:139563056C>T	ENST00000371699.1	+	4	1039	c.128C>T	c.(127-129)tCg>tTg	p.S43L	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Missense_Mutation_p.S43L|EGFL7_ENST00000406555.3_Missense_Mutation_p.S43L|EGFL7_ENST00000371698.3_Missense_Mutation_p.S43L			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	43	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GTCTCCGAGTCGTTCGTGCAG	0.682000													75	152					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129905247	129905247	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:129905247G>A	ENST00000368149.2	-	13	1812	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	575					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CACTCCCTGAGGAACGTCAGC	0.443000													19	34					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74282051	74282051	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:74282051G>A	ENST00000295897.4	+	10	1359	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	ALB_ENST00000415165.2_Missense_Mutation_p.E232K|ALB_ENST00000509063.1_Missense_Mutation_p.E424K|ALB_ENST00000401494.3_Missense_Mutation_p.E309K|ALB_ENST00000503124.1_Missense_Mutation_p.E274K|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	424	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCAGCTTGGAGAGTACAAATT	0.303000													8	23					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929497	4929497	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:4929497G>A	ENST00000359350.4	+	1	898	c.898G>A	c.(898-900)Gag>Aag	p.E300K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAATCTGGGAGAAGATCTT	0.398000													21	68					0	0	1	0	0
DNAJC8	22826	broad.mit.edu	37	1	28559472	28559472	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:28559472C>T	ENST00000263697.4	-	1	64	c.38G>A	c.(37-39)gGa>gAa	p.G13E	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	13					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTGCCTCCGCCGCCTGA	0.622000													55	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437931	179437931	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179437931G>A	ENST00000589042.1	-	326	73152	c.72928C>T	c.(72928-72930)Cct>Tct	p.P24310S	TTN_ENST00000342992.6_Missense_Mutation_p.P21742S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15245S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22669S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15370S|TTN_ENST00000342175.6_Missense_Mutation_p.P15437S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22669	Fibronectin type-III 76.						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)			GGACTGGTAGGACTTGGTGCA	0.423000													36	83					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33132085	33132085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:33132085C>A	ENST00000341947.2	-	65	5256	c.5029G>T	c.(5029-5031)Gag>Tag	p.E1677*	COL11A2_ENST00000374713.1_Nonsense_Mutation_p.E1630*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.E1596*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.E1570*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.E1656*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.E1651*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.E1617*|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.E1591*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1677	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGCTAGTCTCCGGGCTCAGC	0.617000													10	37					7.48243e-07	7.5335e-07	1	1	0
TMEM63B	55362	broad.mit.edu	37	6	44118009	44118009	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:44118009C>T	ENST00000259746.9	+	17	1752	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMEM63B_ENST00000323267.6_Silent_p.I523I			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	523						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTTTCCTCATCTTCATGGTGC	0.602000													26	79					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045529	142045529	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:142045529G>A	ENST00000390392.3	+	0	168																											CAGTCCCCATGGAAACGGGAG	0.473000													60	241					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55703551	55703551	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:55703551G>A	ENST00000379906.2	+	2	604	c.349G>A	c.(349-351)Gga>Aga	p.G117R	SLC6A2_ENST00000219833.8_Missense_Mutation_p.G117R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G117R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G117R|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G117R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G117R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	117					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCTGGCTCTGGGACAGTACAA	0.542000													32	74					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805352	31805352	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:31805352C>T	ENST00000375454.3	+	1	220	c.10C>T	c.(10-12)Cca>Tca	p.P4S	BPIFA3_ENST00000375452.3_Missense_Mutation_p.P4S|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	4						extracellular region	lipid binding										TATGATGTGTCCACTCTGGAG	0.592000													25	73					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834724	61834724	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:61834724C>T	ENST00000280772.1	-	37	6106	c.5915G>A	c.(5914-5916)gGa>gAa	p.G1972E	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1972					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTGGGTGATCCTTTATTATC	0.373000													12	25					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561504	147561504	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:147561504G>A	ENST00000281321.3	+	2	1022	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	258	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCGGGACCTGGAGGCATTCG	0.687000													14	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624013	92624013	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:92624013G>A	ENST00000298047.6	+	27	13521	c.13504G>A	c.(13504-13506)Gaa>Aaa	p.E4502K	FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Missense_Mutation_p.E805K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4502	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCCAACGAAACGGATTT	0.592000										TCGA Ovarian(4;0.039)			21	44					0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139945747	139945747	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:139945747G>A	ENST00000355097.2	-	4	509	c.462C>T	c.(460-462)ttC>ttT	p.F154F	ENTPD2_ENST00000312665.5_Silent_p.F154F	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	154						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCACCCCGGAAGTCAAAGG	0.582000													21	59					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246860	89246860	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:89246860C>T	ENST00000496168.1	-	0	490																											GTTGCAAAATCATCAGGCTGC	0.488000													61	140					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811429	23811429	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:23811429C>T	ENST00000314520.3	+	1	976	c.500C>T	c.(499-501)tCc>tTc	p.S167F	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	167						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCTCCCTTTCCTTGCCTGTG	0.637000													13	33					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:248737528C>T	ENST00000328782.2	-	1	552	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGATTTTCCTAGACTGGC	0.527000													23	128					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171094	51171094	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:51171094T>C	ENST00000440970.1	-	3	4044	c.3613A>G	c.(3613-3615)Agc>Ggc	p.S1205G	SALL1_ENST00000541611.1_Missense_Mutation_p.S125G|SALL1_ENST00000251020.4_Missense_Mutation_p.S1302G|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1302					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTCTCACTGCTTGCCATTTTC	0.572000													12	43					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117707926	117707926	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:117707926C>T	ENST00000276204.6	+	12	1408	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S445L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	445					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAGGGCTCTTCACCCGAATCT	0.468000													26	26					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11510634	11510634	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:11510634G>A	ENST00000393423.3	-	16	1710	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	RGL3_ENST00000380456.3_Intron			Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	549	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CACACTGGGGGAGATGCAGAG	0.652000													50	59					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817525	21817525	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:21817525C>T	ENST00000546471.1	-	0	1533																											TACACTAATCCTTAGTAAGTT	0.284000													3	14					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1094818	1094818	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:1094818C>T	ENST00000441003.2	+	31	5933	c.5906C>T	c.(5905-5907)tCt>tTt	p.S1969F	MUC2_ENST00000333592.6_Missense_Mutation_p.S257F|MUC2_ENST00000361558.6_Missense_Mutation_p.S107F	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	2009						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TACCCTTCCTCTGTGCTTATC	0.612000													79	203					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877596	38877596	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:38877596C>T	ENST00000334928.6	-	3	438	c.306G>A	c.(304-306)ggG>ggA	p.G102G	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	102	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAGCAGAGTCCCCGCGGGGG	0.721000													6	15					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84634288	84634288	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:84634288C>T	ENST00000369681.4	+	10	931	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	264					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	p.S264*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AATCATAATTCACTTATTCCA	0.368000													28	94					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97861254	97861254	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:97861254G>A	ENST00000447648.2	-	13	2135	c.1836C>T	c.(1834-1836)acC>acT	p.T612T	TECPR1_ENST00000379795.3_Silent_p.T613T|TECPR1_ENST00000542604.1_Silent_p.T542T			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	612	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGCGCCCCGGTCTTCACCC	0.721000													8	35					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134234221	134234221	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:134234221G>A	ENST00000535456.2	+	8	921		c.e8-1		GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site|GLB1L2_ENST00000389881.3_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCTTTAACAGTCTTGGCCAC	0.532000													100	237					0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533538	3533538	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3533538C>T	ENST00000407558.4	+	6	816	c.513C>T	c.(511-513)ctC>ctT	p.L171L	LA16c-306E5.3_ENST00000574423.2_RNA|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000575076.1_Silent_p.L171L|NAA60_ENST00000572584.1_Silent_p.L171L|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000424546.2_Silent_p.L178L|NAA60_ENST00000573580.1_Silent_p.L106L|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000414063.2_Silent_p.L171L|NAA60_ENST00000360862.5_Silent_p.L106L	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	171	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GAGGGGTCCTCAAAGATGGCT	0.488000													35	72					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284446	130284446	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:130284446C>T	ENST00000257359.6	-	5	2252	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	516	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCACTTCCTCCTCAGGTAGA	0.627000													25	74					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615002	158615002	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:158615002G>A	ENST00000368148.3	-	29	4350	c.4170C>T	c.(4168-4170)atC>atT	p.I1390I	SPTA1_ENST00000368147.3_Silent_p.I1390I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1390					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTGGTCTAGGATCTTCTTGC	0.438000													54	110					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:127912080G>A	ENST00000451402.1	-	8	1121	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C|PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000													18	48					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49249166	49249166	+	Translation_Start_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:49249166C>T	ENST00000332955.2	-	0	498					NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1						fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGTGCTCTCACCCCAAACCGA	0.577000													8	36					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28723727	28723727	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:28723727C>T	ENST00000257197.3	-	8	1228	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E323K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	323	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTCGCACTTCCATTATTAAC	0.338000													16	29					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16704236	16704236	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:16704236G>A	ENST00000320122.6	-	4	880	c.358C>T	c.(358-360)Cta>Tta	p.L120L	LMO3_ENST00000537304.1_Silent_p.L120L|LMO3_ENST00000535535.1_Silent_p.L120L|LMO3_ENST00000540445.1_Silent_p.L142L|LMO3_ENST00000447609.1_Silent_p.L120L|LMO3_ENST00000354662.1_Silent_p.L120L|LMO3_ENST00000441439.2_Silent_p.L120L|LMO3_ENST00000261169.6_Silent_p.L131L|LMO3_ENST00000534946.1_Silent_p.L120L|LMO3_ENST00000541846.1_Silent_p.L120L|LMO3_ENST00000540848.1_Silent_p.L120L|LMO3_ENST00000541295.1_Silent_p.L138L	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	120	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TTATTCTTTAGGAAAAATTTG	0.348000													20	55					0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778645	111778645	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:111778645G>A	ENST00000445067.2	+	9	1376		c.e9-1		CHI3L2_ENST00000369748.4_Splice_Site|CHI3L2_ENST00000466741.1_Splice_Site|CHI3L2_ENST00000369744.2_Splice_Site|CHI3L2_ENST00000524472.1_Splice_Site			Q15782	CH3L2_HUMAN	chitinase 3-like 2						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TGGCACTTTAGAGATCTGGAT	0.458000													72	230					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211443	45211443	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:45211443G>A	ENST00000587331.1	+	6	1466	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.V417V	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	417										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CACTGGAAGTGGAGCTGCAGG	0.587000													7	17					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175322	117175322	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:117175322C>T	ENST00000003084.6	+	6	732	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CFTR_ENST00000454343.1_Silent_p.F200F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	200	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGCACATTTCGTGTGGATCG	0.453000									Cystic Fibrosis				80	185					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70894058	70894058	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:70894058G>A	ENST00000393567.2	-	71	12192	c.12042C>T	c.(12040-12042)atC>atT	p.I4014I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4014										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTTCAGAGATCCAGCAGA	0.488000													11	49					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25799845	25799845	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:25799845G>A	ENST00000406818.3	-	8	987	c.738C>T	c.(736-738)tgC>tgT	p.C246C	DTNB_ENST00000407186.1_Silent_p.C246C|DTNB_ENST00000407038.3_Silent_p.C246C|DTNB_ENST00000404103.3_Silent_p.C246C|DTNB_ENST00000545439.1_Silent_p.C42C|DTNB_ENST00000405222.1_Silent_p.C246C|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Silent_p.C246C|DTNB_ENST00000407661.3_Silent_p.C246C|DTNB_ENST00000496972.2_Silent_p.C189C	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	246						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCACATCGGCAGTAGGAGC	0.522000													4	17					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684892	44684892	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:44684892C>T	ENST00000396058.1	+	5	2437	c.2270C>T	c.(2269-2271)aCc>aTc	p.T757I	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.T757I|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	757					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAATCCACACCGGAGAAAAA	0.433000													37	98					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141747609	141747609	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:141747609C>T	ENST00000475668.2	+	22	2577	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	MGAM_ENST00000549489.2_Silent_p.I841I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	841	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGTCTTATCATTGCCCTAG	0.433000													19	34					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41089354	41089354	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41089354C>T	ENST00000291842.5	+	11	1060	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	SHKBP1_ENST00000600733.1_Silent_p.L312L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	337						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCCTCCTGGGCT	0.657000													19	16					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5243454	5243454	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:5243454C>T	ENST00000256497.4	+	4	836	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	EDEM1_ENST00000445686.1_Missense_Mutation_p.L40F	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	235					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GGGAAGCCTCCTTTCTGCTCA	0.398000													24	83					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118820	55118820	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:55118820G>A	ENST00000414150.2	+	3	499	c.221G>A	c.(220-222)gGc>gAc	p.G74D	MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.G74D|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.G74D|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.G74D					maestro heat-like repeat family member 7																		GAGGCCTCAGGCCTGGTGTCT	0.547000													28	122					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949405	7949405	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:7949405C>T	ENST00000309838.2	-	1	804	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTTGGTTTCCGGTGAGTAG	0.448000													41	80					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597551	31597551	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31597551C>T	ENST00000376033.2	+	14	2417	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P728L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	728	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ATGATTCCTCCTTATGTGGAC	0.632000													28	58					0	0	1	0	0
SUMO1	7341	broad.mit.edu	37	2	203071997	203071997	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:203071997C>T	ENST00000392246.2	-	5	441	c.285G>A	c.(283-285)acG>acA	p.T95T	SUMO1_ENST00000409498.2_Silent_p.T56T|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409181.1_3'UTR|SUMO1_ENST00000409368.1_Silent_p.T140T|SUMO1_ENST00000392245.1_Silent_p.T95T|SUMO1_ENST00000409712.1_Silent_p.T71T|SUMO1_ENST00000409205.1_Silent_p.T56T|SUMO1_ENST00000392244.3_Silent_p.T70T	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	95	Ubiquitin-like.				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										AATGACCCCCCGTTTGTTCCT	0.299000													90	261					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528777	57528777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:57528777C>T	ENST00000420713.1	+	4	722	c.610C>T	c.(610-612)Cag>Tag	p.Q204*		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAATCAACATCAGATAATTCA	0.343000													5	17					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167365645	167365645	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:167365645G>A	ENST00000367862.5	+	10	1312	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	POU2F1_ENST00000367866.2_Silent_p.E370E|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Silent_p.E347E|POU2F1_ENST00000429375.2_Silent_p.E307E|POU2F1_ENST00000541643.3_Silent_p.E347E	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	347					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACTTTTAGAGAAGTGGCTAA	0.358000													38	104					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904750	73904750	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:73904750G>A	ENST00000342056.2	+	15	2867	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	KCNQ5_ENST00000414165.2_Missense_Mutation_p.M694I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.M804I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.M805I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.M804I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.M814I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.M795I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	804					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACCGTTCTATGAGGAAAAGCT	0.483000													36	55					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029342	119029342	+	Missense_Mutation	SNP	G	G	A	rs145359289	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:119029342G>A	ENST00000307417.3	+	11	1607	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	ABCG4_ENST00000531739.1_Missense_Mutation_p.D415N|ABCG4_ENST00000449422.2_Missense_Mutation_p.D415N	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	415	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCATATTGGCGACGATGCCAG	0.572000													81	156					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953699	186953699	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:186953699C>T	ENST00000296280.6	-	11	2185	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E541K	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	636	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGCCGCCCTCGTAGTAGCCA	0.577000													19	53					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065735	32065735	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:32065735G>A	ENST00000375244.3	-	2	442	c.241C>T	c.(241-243)Cct>Tct	p.P81S	TNXB_ENST00000479795.1_Missense_Mutation_p.P81S|TNXB_ENST00000375247.2_Missense_Mutation_p.P81S			P22105	TENX_HUMAN	tenascin XB	81					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAGTGGAAGGGGGCAGGTTA	0.612000													9	34					0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12645693	12645693	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:12645693G>A	ENST00000251849.4	-	7	1215	c.776C>T	c.(775-777)tCc>tTc	p.S259F	RAF1_ENST00000542177.1_Missense_Mutation_p.S178F|RAF1_ENST00000534997.1_Missense_Mutation_p.S44F|RAF1_ENST00000442415.2_Missense_Mutation_p.S259F	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	259			S -> A (in an ovarian serous carcinoma sample; somatic mutation).|S -> F (in NS5).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATTAGGTGTGGATGTCGACCT	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				31	68					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	39					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577573	2577573	+	Silent	SNP	G	G	A	rs142773629	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:2577573G>A	ENST00000302956.4	+	4	466	c.372G>A	c.(370-372)caG>caA	p.Q124Q	AMDHD2_ENST00000293971.6_Silent_p.Q124Q|AMDHD2_ENST00000413459.3_Silent_p.Q124Q|CEMP1_ENST00000382350.1_Intron|ATP6C_ENST00000569317.1_Silent_p.Q77Q|AMDHD2_ENST00000565570.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	124					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TTGTTCCTCAGATCCCTGTGA	0.647000													5	25					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600263	92600263	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:92600263C>T	ENST00000298047.6	+	21	12032	c.12015C>T	c.(12013-12015)ttC>ttT	p.F4005F	FAT3_ENST00000409404.2_Silent_p.F4005F|FAT3_ENST00000525166.1_Silent_p.F3855F|FAT3_ENST00000533797.1_Silent_p.F340F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4005	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGCAGCTTCGCGGAGGTGG	0.662000										TCGA Ovarian(4;0.039)			7	13					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847944	166847944	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:166847944G>A	ENST00000423058.2	-	26	5858	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	SCN1A_ENST00000375405.3_Silent_p.I1936I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1947I|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I1919I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1947						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCCACCTTTGATTTTGTTTT	0.358000													12	40					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47343395	47343395	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:47343395G>A	ENST00000426342.1	-	13	2298	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	MDGA2_ENST00000399232.2_Missense_Mutation_p.H816Y|MDGA2_ENST00000439988.2_Missense_Mutation_p.H747Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.H518Y|MDGA2_ENST00000399222.3_5'UTR	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	747	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATCCACAATGAAATTCTCCT	0.239000													8	27					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55953829	55953829	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:55953829C>T	ENST00000263923.4	-	27	3902	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1203					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTCCTCCTCCATACAGGAA	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			23	58					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798825	55798825	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:55798825T>G	ENST00000313555.1	+	1	931	c.931T>G	c.(931-933)Tca>Gca	p.S311A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S311P(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AATTGGATATTCAAATGAATG	0.284000													14	39					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459352	186459352	+	Silent	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:186459352A>G	ENST00000265023.4	+	10	1379	c.1167A>G	c.(1165-1167)cgA>cgG	p.R389R	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Silent_p.R353R|KNG1_ENST00000287611.2_Silent_p.R389R|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	389		Cleavage; by kallikrein.			blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CACCTTTCCGATCATCACGAA	0.393000													30	68					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707165	96707165	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:96707165G>A	ENST00000542454.2	+	3	3507	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	BDKRB2_ENST00000539359.1_Missense_Mutation_p.R140Q|BDKRB2_ENST00000306005.3_Missense_Mutation_p.R167Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R167Q			P30411	BKRB2_HUMAN	bradykinin receptor B2	167					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCCATGGGCCGGATGCGCGGC	0.582000													4	176					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411405	126411405	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:126411405G>A	ENST00000394329.3	+	17	13441	c.13428G>A	c.(13426-13428)ggG>ggA	p.G4476G	FAT4_ENST00000335110.5_Silent_p.G2717G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4476					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCTCAGGGGAAGGTGTGCA	0.612000													38	81					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301566	11301566	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:11301566G>A	ENST00000397056.1	+	3	1034	c.843G>A	c.(841-843)aaG>aaA	p.K281K	HRH1_ENST00000438284.2_Silent_p.K281K|HRH1_ENST00000431010.2_Silent_p.K281K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AAACCCCCAAGGAGATGAAAT	0.498000													26	71					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640269	7640269	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:7640269C>T	ENST00000396620.3	-	7	1920	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	CD163_ENST00000432237.2_Splice_Site_p.R579_splice|CD163_ENST00000541972.1_Splice_Site_p.R567_splice|CD163_ENST00000359156.4_Splice_Site_p.R579_splice			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCTGTGTATCCTGGAAGGAG	0.488000													36	101					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975471	19975471	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:19975471C>T	ENST00000295824.9	-	1	201	c.40G>A	c.(40-42)Gat>Aat	p.D14N	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	14					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTCCTAAATCATCCTTTCCT	0.483000													15	11					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	465607	465607	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:465607C>T	ENST00000399788.2	-	6	1131	c.769G>A	c.(769-771)Gat>Aat	p.D257N	KDM5A_ENST00000382815.4_Missense_Mutation_p.D257N	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	257					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CCTTCTTTATCTTTTGTTCCC	0.383000			T	NUP98	AML								9	20					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321450	141321450	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:141321450G>A	ENST00000389328.4	-	10	1827	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L	TRAPPC9_ENST00000438773.2_Silent_p.L507L|TRAPPC9_ENST00000389327.3_Silent_p.L498L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	507					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TAGTTCTCTAGGCTTTGGGCC	0.502000													22	53					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923926	230923926	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:230923926A>C	ENST00000295190.4	-	2	601	c.143T>G	c.(142-144)aTg>aGg	p.M48R		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	48						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTGGGAGCCCATGATGAGGAT	0.582000													28	56					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031240	33031240	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:33031240G>A	ENST00000340811.4	-	3	682	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	PKP2_ENST00000070846.6_Missense_Mutation_p.P192S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	192					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCATATCTCGGTGGCACTAGG	0.612000													35	76					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39669151	39669151	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:39669151C>T	ENST00000599386.1	+	9	1430	c.1249C>T	c.(1249-1251)Cca>Tca	p.P417S	PAK4_ENST00000435673.2_Missense_Mutation_p.P570S|PAK4_ENST00000599470.1_Missense_Mutation_p.P417S|PAK4_ENST00000360442.3_Missense_Mutation_p.P570S|PAK4_ENST00000593690.1_Missense_Mutation_p.P570S|PAK4_ENST00000321944.4_Missense_Mutation_p.P480S|PAK4_ENST00000358301.3_Missense_Mutation_p.P570S	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	570	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCTGAAGCACCCATTCCTGGC	0.677000													25	37					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110303	175110303	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:175110303G>A	ENST00000231683.2	+	1	1840	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	HRH2_ENST00000377291.2_Missense_Mutation_p.V23M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	23					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CACCATCACCGTGGTCCTTGC	0.587000													4	218					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28967277	28967277	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:28967277G>A	ENST00000377179.3	-	5	809	c.297C>T	c.(295-297)aaC>aaT	p.N99N	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTGATACCATGTTCCCATAAT	0.363000													25	84					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6193646	6193646	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:6193646C>T	ENST00000306177.5	+	15	2619	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	821	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCTGTGTGATCCCGGGAGCTT	0.711000													29	108					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916904	70916904	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:70916904C>T	ENST00000322773.4	+	51	3457	c.3355C>T	c.(3355-3357)Ccc>Tcc	p.P1119S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P741S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1119					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCCCCAGGACCCAGTGGAAG	0.517000													44	231					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586468	169586468	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:169586468C>T	ENST00000263686.6	-	3	316	c.279G>A	c.(277-279)ggG>ggA	p.G93G	SELP_ENST00000367791.2_Silent_p.G93G|SELP_ENST00000458599.2_Silent_p.G93G|SELP_ENST00000367794.2_Silent_p.G93G|SELP_ENST00000367786.2_Silent_p.G93G|SELP_ENST00000367792.2_Silent_p.G93G|SELP_ENST00000367793.2_Silent_p.G93G|SELP_ENST00000367788.2_Silent_p.G93G	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	93	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCTTTCGGATCCCAATCCAGT	0.443000													75	157					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478616	1478616	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:1478616G>T	ENST00000297508.7	-	10	2157	c.1982C>A	c.(1981-1983)cCa>cAa	p.P661Q	MICALL2_ENST00000405088.4_Missense_Mutation_p.P449Q	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	661						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCGGCGGGGTGGGGAGGGGGA	0.701000													17	59					1.67942e-08	1.69281e-08	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70916905	70916905	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:70916905C>T	ENST00000322773.4	+	51	3458	c.3356C>T	c.(3355-3357)cCc>cTc	p.P1119L	COL19A1_ENST00000393344.1_Missense_Mutation_p.P741L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1119					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCCCAGGACCCAGTGGAAGA	0.522000													42	232					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107518	31107518	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31107518C>T	ENST00000259881.9	+	6	557	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	PSORS1C1_ENST00000547221.1_Missense_Mutation_p.P42S|PSORS1C1_ENST00000481450.2_Missense_Mutation_p.P27S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	90										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TATCCTGGTTCCCTCTTCCCA	0.562000													33	73					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117131439	117131439	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:117131439C>T	ENST00000369486.3	-	8	3082	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	IGSF3_ENST00000369483.1_Missense_Mutation_p.E793K|IGSF3_ENST00000318837.6_Missense_Mutation_p.E793K	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	773	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCGCTGACCTCGGCTCTCTGG	0.627000													39	53					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493804	128493804	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:128493804C>T	ENST00000325888.8	+	39	6658	c.6397C>T	c.(6397-6399)Cgc>Tgc	p.R2133C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2100C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2133					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGCGAGGGCCGCATGAAGGA	0.622000													24	69					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69728383	69728383	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:69728383G>A	ENST00000370598.1	+	13	2920	c.2099G>A	c.(2098-2100)gGa>gAa	p.G700E		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	700					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTAATGACTGGAAATGTAGGT	0.313000													29	48					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72712089	72712089	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:72712089G>A	ENST00000409314.1	-	5	501	c.333C>T	c.(331-333)ttC>ttT	p.F111F	FCHSD2_ENST00000409418.4_Silent_p.F111F|FCHSD2_ENST00000409853.1_Silent_p.F55F|FCHSD2_ENST00000311172.7_Silent_p.F55F|FCHSD2_ENST00000458644.2_Intron			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	111							protein binding	p.F111F(1)|p.F55F(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GCTCAGAAATGAAGTTTTTAT	0.363000													6	13					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898079	159898079	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:159898079G>A	ENST00000368094.1	-	19	3296	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	IGSF9_ENST00000361509.3_Silent_p.F1017F|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1033						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCCGCAGGAACGAAGCGC	0.697000													9	19					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415786	105415786	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:105415786G>A	ENST00000333244.5	-	7	6121	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2001						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTGGGGCCGATACCCCGAA	0.617000													132	80					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270394	1270394	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:1270394G>A	ENST00000447027.1	+	31	12351	c.12293G>A	c.(12292-12294)aGg>aAg	p.R4098K	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4095K|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4095	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCTCCAGGACCACGGCC	0.701000													71	183					0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69134278	69134278	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:69134278G>A	ENST00000273258.3	+	1	184	c.80G>A	c.(79-81)aGg>aAg	p.R27K	ARL6IP5_ENST00000478935.1_Missense_Mutation_p.R27K	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	27					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CCGGACTTCAGGGACATTTCC	0.537000													24	80					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981585	40981585	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:40981585G>A	ENST00000313164.9	+	18	2801	c.2442G>A	c.(2440-2442)acG>acA	p.T814T		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	814	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGAGCAGACGATGTCTGAGT	0.557000													11	22					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466461	74466461	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:74466461C>T	ENST00000394019.2	-	21	2717		c.e21+1		RP11-287D1.3_ENST00000451608.2_Splice_Site|SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site|SLC4A5_ENST00000483195.1_Splice_Site	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5							apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGTGAGCTTACCTTGGTAGGA	0.547000													17	61					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109962285	109962285	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:109962285T>A	ENST00000342494.3	+	23	3140	c.2545T>A	c.(2545-2547)Tac>Aac	p.Y849N	UBE3B_ENST00000434735.2_Missense_Mutation_p.Y849N	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	849	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GACGCTGTCTTACGACGAGGA	0.552000													12	44					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749577	33749577	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:33749577A>T	ENST00000394562.1	-	4	994	c.471T>A	c.(469-471)taT>taA	p.Y157*	SLFN12_ENST00000452764.3_Nonsense_Mutation_p.Y157*|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.Y157*			Q8IYM2	SLN12_HUMAN	schlafen family member 12	157							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGTCTTAAATACAATCTCC	0.398000													18	29					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918745	17918745	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:17918745C>T	ENST00000318683.6	+	2	276	c.129C>T	c.(127-129)atC>atT	p.I43I	B3GNT3_ENST00000595387.1_Silent_p.I43I	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	43					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CACCGGCGATCCCCGAGGCCC	0.677000													19	12					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633373	3633373	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3633373G>A	ENST00000294008.3	-	14	5518	c.4878C>T	c.(4876-4878)tgC>tgT	p.C1626C		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1626	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGAGGGTCTGGCAGTGAGGCG	0.627000								Direct reversal of damage					37	102					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008129	46008129	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:46008129G>A	ENST00000296137.2	-	8	2902	c.2697C>T	c.(2695-2697)caC>caT	p.H899H	FYCO1_ENST00000535325.1_Silent_p.H899H	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	899					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGTTGGCCCGGTGCAGCTGCT	0.647000													12	44					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	248368	248368	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:248368G>A	ENST00000538872.1	+	4	1957	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A	IQSEC3_ENST00000326261.4_Silent_p.A613A|IQSEC3_ENST00000382841.2_Silent_p.A310A|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	613					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCTCGGAGGCGTCGGCCTCCG	0.697000													8	18					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369295	22369295	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:22369295C>T	ENST00000332663.2	+	1	818	c.720C>T	c.(718-720)tcC>tcT	p.S240S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGGCCATGTCCACCTGCTATT	0.458000													28	414					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021425	132021425	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:132021425G>A	ENST00000356920.5	+	15	2491	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	799	Actin-like.						ATP binding										TGGCTCCCGAGGAGCACCCCA	0.582000													68	166					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808226	18808226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:18808226C>T	ENST00000400664.1	+	1	803	c.751C>T	c.(751-753)Cag>Tag	p.Q251*		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	251						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCTGCATCAGCAGGAGGG	0.602000													82	75					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132472256	132472256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:132472256C>T	ENST00000333577.4	+	8	2447	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	EP400_ENST00000332482.4_Nonsense_Mutation_p.Q707*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q744*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q743*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q744*			Q96L91	EP400_HUMAN	E1A binding protein p400	780					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACAGGAGAACCAGGTGCATCA	0.567000													13	60					0	0	1	0	0
CXCL14	9547	broad.mit.edu	37	5	134910355	134910355	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:134910355G>A	ENST00000337225.5	-	3	691	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CXCL14_ENST00000512158.1_Missense_Mutation_p.S64F|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	76					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGGTACCTGGACACGCTCTT	0.582000													18	23					0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43475327	43475327	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:43475327C>T	ENST00000372441.1	-	5	1647	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	249																	GGTCACAGATCTGTTGCTGCA	0.607000													24	52					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211461	8211461	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8211461C>T	ENST00000307637.4	-	2	1524	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	441					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478000													28	69					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049681	63049681	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:63049681C>T	ENST00000439174.2	-	2	694	c.449G>A	c.(448-450)aGa>aAa	p.R150K	GNA13_ENST00000541118.1_Missense_Mutation_p.R55K	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	150					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CCATAATGCTCTTATAGCAGG	0.443000													58	45					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418717	2418717	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:2418717C>T	ENST00000449969.1	+	7	1096	c.935C>T	c.(934-936)tCg>tTg	p.S312L	PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.S339L|PLCH2_ENST00000378488.3_Missense_Mutation_p.S339L|PLCH2_ENST00000419816.2_Missense_Mutation_p.S339L|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	339					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTCATCACCTCGTCCCACAAC	0.602000													8	39					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41133218	41133218	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41133218T>A	ENST00000308370.7	+	32	4522	c.4522T>A	c.(4522-4524)Ttc>Atc	p.F1508I	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.F876I|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.F1471I|LTBP4_ENST00000396819.3_Missense_Mutation_p.F1441I	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1509					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCCGCTCCTTCCCAGAGCC	0.652000													4	7					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48139061	48139061	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:48139061C>T	ENST00000311303.3	-	19	3007	c.2662G>A	c.(2662-2664)Gtg>Atg	p.V888M	ABCC12_ENST00000448542.1_Missense_Mutation_p.V885M|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	888	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTATCAAACACCGTGTCATGC	0.527000													29	89					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													7	37					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129243	3129243	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:3129243G>A	ENST00000380266.3	-	2	795	c.474C>T	c.(472-474)ctC>ctT	p.L158L	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	158					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CTTGAGCCTGGAGATTATTTT	0.448000													18	53					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715199	76715199	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:76715199C>T	ENST00000369950.3	-	10	1129	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	314	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTTTTTGCTTCTGCACTGTGT	0.463000													31	52					0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8328461	8328461	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8328461G>A	ENST00000359286.4	+	4	330	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TTCAGACAGGGAAAGTGCCCT	0.338000													26	68					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49075815	49075815	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:49075815G>A	ENST00000262013.7	-	15	2036	c.1828C>T	c.(1828-1830)Ctt>Ttt	p.L610F	SPAG9_ENST00000505279.1_Missense_Mutation_p.L600F|SPAG9_ENST00000510283.1_Missense_Mutation_p.L453F|SPAG9_ENST00000357122.4_Missense_Mutation_p.L596F	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	610					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCTTCACTAAGGAAATCAAAG	0.398000													45	36					0	0	1	0	0
DUSP12	11266	broad.mit.edu	37	1	161721528	161721528	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:161721528G>A	ENST00000367943.4	+	2	447	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	139	Tyrosine-protein phosphatase.				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACTTCCCTTTGAAAAAGCCTA	0.348000													34	93					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080414	42080414	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:42080414C>T	ENST00000400454.1	-	2	804	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	109	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCTAATTTTCCCTGAAGGAT	0.443000													39	86					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118042086	118042086	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:118042086C>T	ENST00000356554.3	+	11	2322	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	529					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGTATTATATCCTCCGTCCAG	0.463000													36	37					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38748870	38748870	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:38748870C>T	ENST00000449082.2	-	25	4285	c.4286G>A	c.(4285-4287)gGg>gAg	p.G1429E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1429					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCCTGGCCCCCTAAGTGCAG	0.512000													25	62					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538850	56538850	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:56538850C>T	ENST00000390649.3	+	7	1251	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	417	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGAGAAGCTCAAGTCAGAGG	0.557000													25	33					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19471648	19471648	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:19471648G>A	ENST00000396229.2	+	6	1889	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	TMC5_ENST00000564959.1_Silent_p.R42R|TMC5_ENST00000561503.1_Silent_p.R21R|TMC5_ENST00000541464.1_Silent_p.R380R|TMC5_ENST00000219821.5_Silent_p.R134R|TMC5_ENST00000542583.2_Silent_p.R380R|TMC5_ENST00000381414.4_Silent_p.R380R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	380						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGAAAAGGAACCTTAGGT	0.398000													13	41					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768332	57768332	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:57768332G>A	ENST00000371030.2	+	1	2258	c.2258G>A	c.(2257-2259)gGg>gAg	p.G753E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	753						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTCCAAATGGGAGGCTGGAA	0.637000													3	21					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938825	47938825	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:47938825C>T	ENST00000402813.3	-	10	2035	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	CNGA1_ENST00000420489.2_Silent_p.T562T|CNGA1_ENST00000544810.1_Silent_p.T562T|CNGA1_ENST00000358519.4_Silent_p.T562T|CNGA1_ENST00000514170.1_Silent_p.T562T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	562					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATATTGGCCGTTCTTCGAT	0.443000													53	144					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169521893	169521893	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:169521893C>T	ENST00000367796.3	-	8	1399	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	F5_ENST00000367797.3_Missense_Mutation_p.E400K|F5_ENST00000546081.1_Missense_Mutation_p.E263K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	400	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GACTCATCTTCGTACTGTGTG	0.353000													24	81					0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45244825	45244825	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:45244825C>T	ENST00000352766.7	+	15	1392	c.1392C>T	c.(1390-1392)aaC>aaT	p.N464N	ARHGAP8_ENST00000389773.5_Silent_p.N376N|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.N385N|ARHGAP8_ENST00000389774.2_Silent_p.N285N|ARHGAP8_ENST00000336963.4_Silent_p.N254N|ARHGAP8_ENST00000517296.3_Silent_p.N464N|ARHGAP8_ENST00000356099.6_Silent_p.N254N																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						AGCCCGTGAACTTTGACGACT	0.617000													56	136					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145039	56145039	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:56145039C>T	ENST00000394555.2	-	4	713	c.278G>A	c.(277-279)gGa>gAa	p.G93E	EFEMP1_ENST00000394554.1_Missense_Mutation_p.G93E|EFEMP1_ENST00000424836.2_Missense_Mutation_p.G35E|EFEMP1_ENST00000355426.3_Missense_Mutation_p.G93E	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	93					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCCTGAGGTTCCTTCTGCTGG	0.547000													43	110					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555821	145555821	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:145555821C>T	ENST00000355594.4	+	2	256	c.170_splice	c.e2+1	p.P57_splice	ANKRD35_ENST00000544626.1_Splice_Site_p.P57_splice	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	57										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCCAGTCCCCGTAAGTCAG	0.587000													13	27					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49424510	49424510	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:49424510G>A	ENST00000301067.7	-	41	13712	c.13713C>T	c.(13711-13713)gcC>gcT	p.A4571A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCTAAAATTGGCGGTGATAG	0.597000													29	93					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753866	49753866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:49753866C>T	ENST00000304801.3	-	1	1187	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	345					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CAAAGGCATCCCATTCAAATA	0.478000													45	152					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831965	58831965	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:58831965T>C	ENST00000355431.3	+	20	3531	c.3158T>C	c.(3157-3159)gTt>gCt	p.V1053A	ARID4A_ENST00000431317.2_Missense_Mutation_p.V1053A|ARID4A_ENST00000348476.3_Missense_Mutation_p.V1053A|ARID4A_ENST00000395168.3_Missense_Mutation_p.V1053A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1053					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAACTAATGTTGCCTCTGGT	0.373000													25	62					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42043032	42043032	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:42043032C>T	ENST00000359308.4	+	6	1561	c.906C>T	c.(904-906)acC>acT	p.T302T	XRCC6_ENST00000428575.2_Silent_p.T169T|XRCC6_ENST00000360079.3_Silent_p.T302T|XRCC6_ENST00000402580.3_Silent_p.T261T|XRCC6_ENST00000405878.1_Silent_p.T302T|XRCC6_ENST00000405506.1_Silent_p.T252T			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	302	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGACCCGGACCTTTAATACAA	0.458000								Non-homologous end-joining					65	219					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599404	57599404	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:57599404G>A	ENST00000217133.1	+	4	1191	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	308					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCTCCGCCGTGGCCGCTACCT	0.632000													24	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613305	179613305	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179613305G>A	ENST00000360870.5	-	46	14044	c.13822C>T	c.(13822-13824)Cct>Tct	p.P4608S	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	727	Ig-like 26.						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)			GTGTCAGCAGGATGTTGGATT	0.368000													54	99					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445848	98445848	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:98445848G>A	ENST00000416379.2	-	8	1143	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	TMEM130_ENST00000450876.1_Intron|TMEM130_ENST00000339375.4_Intron|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000546258.1_Intron			Q8N3G9	TM130_HUMAN	transmembrane protein 130	380						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATGGGGGAAAAGTCAAA	0.567000													15	35					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231424	7231424	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:7231424C>T	ENST00000383467.2	+	1	302	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	96										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGACCCGGATCGTGGTCCTGA	0.577000													27	55					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97112277	97112277	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:97112277G>A	ENST00000524981.3	+	16	2134	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K				Q6ZTY8	CL063_HUMAN		686										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACTTAAAGATGAGATCACTCT	0.338000													21	52					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801924	125801924	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:125801924G>A	ENST00000346248.5	-	4	1568	c.926C>T	c.(925-927)cCc>cTc	p.P309L	CHST15_ENST00000421115.1_Missense_Mutation_p.P309L|CHST15_ENST00000435907.1_Missense_Mutation_p.P309L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	309					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ATCTTCCACGGGATAGCGGTC	0.532000													23	38					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694582	49694582	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:49694582C>T	ENST00000296452.4	+	5	7707	c.7593C>T	c.(7591-7593)ctC>ctT	p.L2531L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2531					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCGGGGTCTCCCCAGCTCTG	0.627000													18	52					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662686	49662686	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:49662686C>T	ENST00000296452.4	+	2	617	c.503C>T	c.(502-504)aCg>aTg	p.T168M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	168					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGCAGCACGCTGTGTCCC	0.607000													28	81					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270395	1270395	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:1270395G>A	ENST00000447027.1	+	31	12352	c.12294G>A	c.(12292-12294)agG>agA	p.R4098R	MUC5B_ENST00000529681.1_Silent_p.R4095R|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4095	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTCCAGGACCACGGCCA	0.706000													72	184					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516237	179516237	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179516237G>A	ENST00000589042.1	-	207	39714	c.39490C>T	c.(39490-39492)Cct>Tct	p.P13164S	TTN_ENST00000342992.6_Missense_Mutation_p.P10730S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11657S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11517	Ig-like 87.						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)			TTCTTTTCAGGAACAACCTCC	0.468000													31	61					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203219	41203219	+	Silent	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:41203219A>C	ENST00000263413.3	-	2	378	c.114T>G	c.(112-114)acT>acG	p.T38T	C6_ENST00000337836.5_Silent_p.T38T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	38	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGAATTGCAAGTTTTTGAGC	0.493000													9	267					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159488	39159488	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:39159488G>A	ENST00000359534.3	-	5	1016	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	226					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGAGCTCCACGAAGTAGCGGT	0.572000													64	155					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386971	121386971	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:121386971G>A	ENST00000393667.3	-	19	9481	c.9371C>T	c.(9370-9372)cCc>cTc	p.P3124L	GOLGB1_ENST00000340645.5_Missense_Mutation_p.P3114L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3114					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTTCCTGGGGAGCTCCTGG	0.453000													11	36					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040036	41040036	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41040036G>A	ENST00000352632.3	+	20	4231	c.4145G>A	c.(4144-4146)cGg>cAg	p.R1382Q	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1382Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R58Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R125Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1382Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1382Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1382					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCGTGCGGAAGAAGCTG	0.632000													9	33					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215376	8215376	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:8215376C>T	ENST00000361926.3	+	2	129	c.19C>T	c.(19-21)Cct>Tct	p.P7S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P7S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	7	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCAGTCCCTTCCTGCAGCAAC	0.627000													23	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472716	179472716	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179472716C>T	ENST00000589042.1	-	276	53022	c.52798G>A	c.(52798-52800)Gaa>Aaa	p.E17600K	TTN_ENST00000342992.6_Missense_Mutation_p.E15032K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8535K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15959K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8660K|TTN_ENST00000342175.6_Missense_Mutation_p.E8727K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15959	Fibronectin type-III 27.						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)			CCAACAATTTCCCCACCACCA	0.473000													32	79					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593679	123593679	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:123593679G>A	ENST00000340011.5	+	3	412	c.55G>A	c.(55-57)Gga>Aga	p.G19R	SPAM1_ENST00000402183.2_Missense_Mutation_p.G19R|SPAM1_ENST00000223028.7_Missense_Mutation_p.G19R|SPAM1_ENST00000460182.1_Missense_Mutation_p.G19R|SPAM1_ENST00000439500.1_Missense_Mutation_p.G19R	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	19					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TAAATCAAGTGGAGTATCCCA	0.383000													12	53					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51669729	51669729	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:51669729G>A	ENST00000409535.1	+	9	1388	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	RAD54L2_ENST00000296477.3_Silent_p.P115P	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	421	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAGGTAGACCGAAGAAAACCA	0.512000													12	19					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097501	75097501	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:75097501G>A	ENST00000326665.5	-	7	933	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	C1orf173_ENST00000420661.2_Missense_Mutation_p.P42S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	239										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCAGTTGGGGGAAGTGGAGGA	0.408000													28	57					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812100	158812100	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:158812100G>A	ENST00000368141.4	+	2	418	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	53	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGATTTGATGGAAAAAAAGTT	0.328000													23	58					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136319	103136319	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:103136319G>A	ENST00000295269.4	+	9	2180	c.1721_splice	c.e9-1	p.A575_splice		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	575					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGATTCCAGGGCCCAGAGGAT	0.458000													23	55					0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892177	90892177	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:90892177G>A	ENST00000412799.2	-	1	492	c.253C>T	c.(253-255)Cct>Tct	p.P85S																								CTAGTGGGAGGGATAGTGTTG	0.473000													8	36					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945117	144945117	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:144945117C>T	ENST00000525985.1	-	2	2376	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N				P58107	EPIPL_HUMAN	epiplakin 1	769						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGTTGGGGTCGAAGAAGCCC	0.627000													64	154					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97045526	97045526	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:97045526C>T	ENST00000524981.3	+	3	386	c.386C>T	c.(385-387)cCa>cTa	p.P129L				Q6ZTY8	CL063_HUMAN		103										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCTGTTTTACCATTCTATTTG	0.313000													10	36					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30959841	30959841	+	Silent	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:30959841T>C	ENST00000399914.1	-	11	2114	c.1593A>G	c.(1591-1593)aaA>aaG	p.K531K	GRIK1_ENST00000389125.3_Silent_p.K531K|GRIK1_ENST00000399913.1_Silent_p.K546K|GRIK1_ENST00000399909.1_Silent_p.K531K|GRIK1_ENST00000327783.4_Silent_p.K546K|GRIK1_ENST00000389124.2_Silent_p.K546K|GRIK1_ENST00000309434.7_Silent_p.K548K|GRIK1_ENST00000399907.1_Silent_p.K546K|GRIK1_ENST00000535441.1_Silent_p.K548K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	546	Glutamate binding (By similarity).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCATGAAGGGTTTGGAGAAGT	0.507000													12	47					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309366	248309366	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:248309366G>A	ENST00000366476.1	+	1	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAAGTGTTAGGAAAGGGCAAG	0.438000													21	54					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328236	126328236	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:126328236C>A	ENST00000394329.3	+	3	5522	c.5509C>A	c.(5509-5511)Cat>Aat	p.H1837N	FAT4_ENST00000335110.5_Missense_Mutation_p.H135N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1837	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTGAATGACCATACACCCAA	0.448000													56	126					3.56336e-21	3.60821e-21	1	1	0
MUM1L1	139221	broad.mit.edu	37	X	105450578	105450578	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:105450578T>C	ENST00000337685.2	+	5	1938	c.1153T>C	c.(1153-1155)Tat>Cat	p.Y385H	MUM1L1_ENST00000372552.1_Missense_Mutation_p.Y385H|MUM1L1_ENST00000357175.2_Missense_Mutation_p.Y385H	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	385										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATTTTACATTATGAGACACA	0.378000													12	7					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267424	1267424	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:1267424G>A	ENST00000339381.5	+	3	545	c.513G>A	c.(511-513)atG>atA	p.M171I		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	171					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GTGCTAGCATGGAGCTGCTGA	0.697000													48	74					0	0	1	0	0
DUSP19	142679	broad.mit.edu	37	2	183960311	183960311	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:183960311C>T	ENST00000354221.4	+	4	754	c.579C>T	c.(577-579)ttC>ttT	p.F193F	AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Silent_p.F142F|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	193	Tyrosine-protein phosphatase.				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						ATTCTGGCTTCATGGAGCAGC	0.393000													33	94					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491342	30491342	+	Missense_Mutation	SNP	G	G	A	rs148340769		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:30491342G>A	ENST00000222823.4	-	6	2216	c.1691C>T	c.(1690-1692)cCg>cTg	p.P564L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	564					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCACTGGAACGGGAGGAAGGG	0.627000													53	106					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39283020	39283020	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:39283020G>A	ENST00000425054.2	-	5	848	c.849C>T	c.(847-849)atC>atT	p.I283I	KCNK16_ENST00000373229.5_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCTGGTCAGGGATGTTGCAGT	0.552000													11	13					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5917990	5917990	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:5917990G>A	ENST00000340578.6	-	16	1532	c.1473_splice	c.e16-1	p.A492_splice	RANBP3_ENST00000439268.2_Splice_Site_p.A487_splice|RANBP3_ENST00000541471.1_Splice_Site_p.A364_splice|RANBP3_ENST00000034275.8_Splice_Site_p.A424_splice|RANBP3_ENST00000591092.1_Splice_Site_p.A419_splice	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	492	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTTGGAGCTGGCCTGGGAAGG	0.642000													39	54					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:100263983G>A	ENST00000515683.1	-	0	1148					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													97	294					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101062652	101062652	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:101062652G>A	ENST00000394095.2	-	14	2037	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S	SENP7_ENST00000394094.2_Missense_Mutation_p.P597S|SENP7_ENST00000358203.3_Missense_Mutation_p.P498S|SENP7_ENST00000314261.7_Missense_Mutation_p.P596S|SENP7_ENST00000394091.1_Missense_Mutation_p.P498S|SENP7_ENST00000348610.3_Missense_Mutation_p.P629S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	662					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGAAACAAAGGAAATGCCTGA	0.358000													16	39					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569274	130569274	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:130569274C>T	ENST00000373245.1	+	5	459	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	FPGS_ENST00000393706.2_Missense_Mutation_p.R137W|FPGS_ENST00000373225.3_Missense_Mutation_p.R87W|FPGS_ENST00000373247.2_Missense_Mutation_p.R137W|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	137					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGTGCAGGTTCGGGAGCGGAT	0.642000													34	79					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857020	9857020	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:9857020C>T	ENST00000396573.2	-	14	4690	c.4381G>A	c.(4381-4383)Gaa>Aaa	p.E1461K	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1461K|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1461K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1461					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1461K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACATCAGATTCGATACTAGGC	0.368000													13	33					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53453786	53453786	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:53453786G>A	ENST00000371514.3	+	11	1227	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	SCP2_ENST00000407246.2_Silent_p.K329K|SCP2_ENST00000371509.4_Silent_p.K309K|SCP2_ENST00000371513.5_Silent_p.K309K|SCP2_ENST00000528311.1_Silent_p.K272K	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	353					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TGATTTCAAAGGGACACCCAC	0.368000													37	58					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121538	38121538	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:38121538C>T	ENST00000406386.3	+	7	3230	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	992					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCCGAACTTCCTCACCTGTG	0.647000													81	230					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051152	75051152	+	Missense_Mutation	SNP	G	G	A	rs143013340		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:75051152G>A	ENST00000401621.2	-	20	2401	c.2281C>T	c.(2281-2283)Cat>Tat	p.H761Y	TTC18_ENST00000355577.3_Missense_Mutation_p.H230Y|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.H761Y|TTC18_ENST00000310715.3_Missense_Mutation_p.H761Y			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	761							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAGGCCTCATGAAATGCCATT	0.398000													29	52					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470814	79470814	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:79470814C>T	ENST00000370742.3	-	2	176	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	38	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G38E(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGCTTCAATTCCATTGCGTAT	0.348000													23	83					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464088	50464088	+	Missense_Mutation	SNP	C	C	T	rs143146438		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:50464088C>T	ENST00000447370.2	-	2	271	c.181G>A	c.(181-183)Gat>Aat	p.D61N	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.D61N	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	61	Ig-like V-type.				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)		TCCCAGCCATCCCGGGGGTAG	0.582000													23	93					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99520598	99520598	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:99520598G>A	ENST00000376460.1	-	28	3057	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	DOCK9_ENST00000448493.2_Missense_Mutation_p.H1005Y|DOCK9_ENST00000339416.2_Missense_Mutation_p.H994Y|DOCK9_ENST00000442173.1_Missense_Mutation_p.H993Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	994					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCATGATGATAGGATGCA	0.383000													5	20					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89524524	89524524	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:89524524C>T	ENST00000370473.4	-	5	850	c.631_splice	c.e5+1	p.G211_splice		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	211					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCTCTGTTACCTTTCTTCAGC	0.408000													76	66					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9227166	9227166	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:9227166G>A	ENST00000318602.7	-	29	4053	c.3746C>T	c.(3745-3747)tCc>tTc	p.S1249F		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1249					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGGGTGGAGGAGAAACCGCC	0.473000													4	19					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113379536	113379536	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:113379536C>T	ENST00000228928.7	+	2	518	c.339C>T	c.(337-339)gtC>gtT	p.V113V	OAS3_ENST00000548514.1_Silent_p.V113V|OAS3_ENST00000546638.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.V113V	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	113	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGAACCCAGTCCCTGGTCTGA	0.597000													32	67					0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149563178	149563178	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:149563178C>T	ENST00000231656.8	+	3	815	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCTGTGTCCCAGCAACAC	0.657000													20	40					0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12645692	12645692	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:12645692G>A	ENST00000251849.4	-	7	1216	c.777C>T	c.(775-777)tcC>tcT	p.S259S	RAF1_ENST00000542177.1_Silent_p.S178S|RAF1_ENST00000534997.1_Silent_p.S44S|RAF1_ENST00000442415.2_Silent_p.S259S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	259			S -> A (in an ovarian serous carcinoma sample; somatic mutation).|S -> F (in NS5).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CATTAGGTGTGGATGTCGACC	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				32	68					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64676806	64676806	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:64676806G>A	ENST00000421419.2	-	15	2255	c.2141C>T	c.(2140-2142)cCt>cTt	p.P714L	ATG2A_ENST00000377264.3_Missense_Mutation_p.P714L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	714							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACGCAGGCAAGGGACAGGTGG	0.587000													22	60					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1061837	1061837	+	Silent	SNP	G	G	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:1061837G>C	ENST00000263094.6	+	41	5751	c.5520G>C	c.(5518-5520)gtG>gtC	p.V1840V	ABCA7_ENST00000435683.2_Silent_p.V1702V|ABCA7_ENST00000433129.1_Silent_p.V1840V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1840	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGCATGGTGACGGGGGACA	0.652000													5	51					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484530	43484530	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:43484530G>A	ENST00000395891.1	+	11	2364	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	HECW1_ENST00000453890.1_Missense_Mutation_p.E587K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	587					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						CGGCGCGGAGGAGGAGTCCAC	0.682000													23	58					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690583	77690583	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:77690583G>A	ENST00000521891.2	+	4	3681	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1052Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1052Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1052Q|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1052						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)			GAGGGCCTACGGAAGCTCCAG	0.498000										HNSCC(33;0.089)			41	178					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47684697	47684697	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:47684697A>G	ENST00000393331.3	-	10	1222	c.752T>C	c.(751-753)tTt>tCt	p.F251S	SPOP_ENST00000504102.1_Missense_Mutation_p.F251S|SPOP_ENST00000503676.1_Missense_Mutation_p.F251S|SPOP_ENST00000393328.2_Missense_Mutation_p.F251S|SPOP_ENST00000347630.2_Missense_Mutation_p.F251S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	251	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTCCTTAAAAACTTCAGG	0.388000										Prostate(2;0.17)			52	33					0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24210747	24210747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:24210747G>A	ENST00000345044.6	+	3	468	c.200G>A	c.(199-201)tGg>tAg	p.W67*	SLC2A11_ENST00000398356.2_Nonsense_Mutation_p.W74*|SLC2A11_ENST00000403208.3_Nonsense_Mutation_p.W67*|SLC2A11_ENST00000316185.8_Nonsense_Mutation_p.W70*|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Nonsense_Mutation_p.W32*|SLC2A11_ENST00000405847.1_Nonsense_Mutation_p.W67*			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	67						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGCTTATGTGGTCCCTCATC	0.557000													26	99					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411427	126411427	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:126411427C>T	ENST00000394329.3	+	17	13463	c.13450C>T	c.(13450-13452)Cct>Tct	p.P4484S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2725S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4484					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCTGGAAGTCCTGCGGGGCA	0.612000													33	94					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162423	33162423	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:33162423C>T	ENST00000510327.1	-	0	346																											CCACACAGTCCGTGTGCAGGG	0.557000													17	41					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43703661	43703661	+	Silent	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:43703661T>A	ENST00000372806.3	+	11	1403	c.1308T>A	c.(1306-1308)ctT>ctA	p.L436L	STK4_ENST00000499879.2_Silent_p.L381L|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	436	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TCTTCTAGCTTAAGAGTTGGA	0.537000													14	31					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356893	2356893	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:2356893G>A	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GGGATGACATGATCTTCCTGC	0.562000													55	160					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337056	22337056	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:22337056G>A	ENST00000390436.2	+	0	37																											ACATCCATTCGAGCTGTATTT	0.413000													14	28					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48387816	48387816	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:48387816G>A	ENST00000380518.3	-	13	995	c.831C>T	c.(829-831)ttC>ttT	p.F277F	COL2A1_ENST00000337299.6_Silent_p.F208F	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	277	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTTCCTGGGAAACCACGAG	0.542000													83	211					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53613139	53613139	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:53613139G>A	ENST00000455735.2	-	7	623	c.303C>T	c.(301-303)atC>atT	p.I101I	ZNF415_ENST00000595813.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.I53I|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.I101I|ZNF415_ENST00000440291.1_Silent_p.I40I|ZNF415_ENST00000421033.1_Silent_p.I65I|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000601215.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.I53I|ZNF415_ENST00000599261.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTAGTTCCTTGATTACACAGT	0.343000													50	53					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14171043	14171043	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:14171043C>T	ENST00000306077.4	+	2	398	c.144C>T	c.(142-144)taC>taT	p.Y48Y		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	48						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TCTCCTTCTACCTAATTTTCA	0.542000													10	36					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833813	45833813	+	Missense_Mutation	SNP	C	C	T	rs143286660		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:45833813C>T	ENST00000397928.1	+	20	3447	c.3002C>T	c.(3001-3003)aCc>aTc	p.T1001I	TRPM2_ENST00000397932.2_Missense_Mutation_p.T1001I|TRPM2_ENST00000300481.9_Missense_Mutation_p.T981I|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1001I|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1001						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAATGGCACCGACCCCTAC	0.617000													110	297					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33073614	33073614	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:33073614G>A	ENST00000397149.3	-	2	267	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	73	CTLH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AGGTCAATGAGGGTTTTGTCT	0.483000													12	20					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1544456	1544456	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:1544456G>A	ENST00000345913.4	+	16	2800	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	TPO_ENST00000349624.3_Silent_p.G730G|TPO_ENST00000346956.3_Silent_p.G859G|TPO_ENST00000329066.4_Silent_p.G903G|TPO_ENST00000382198.1_Silent_p.G730G|TPO_ENST00000382201.3_Silent_p.G846G|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	903					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGCCGTAGGGACCTCACCGC	0.637000													27	86					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190243	17190243	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:17190243G>A	ENST00000265970.7	-	1	1045	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	349					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ATGGCCCTGGGCTTTTGCAAG	0.343000													37	80					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551105	7551105	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:7551105C>T	ENST00000313599.3	-	7	1541	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G505E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G495E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	495	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCCACTCTCCTTGGTATTT	0.473000													25	95					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644490	18644490	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:18644490G>A	ENST00000433979.1	+	19	2784	c.2668G>A	c.(2668-2670)Gat>Aat	p.D890N	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.D890N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D931N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	890					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATTGATCACGATGTAAGTCA	0.328000													26	63					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369294	22369294	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:22369294C>A	ENST00000332663.2	+	1	817	c.719C>A	c.(718-720)tCc>tAc	p.S240Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGGGCCATGTCCACCTGCTAT	0.458000													28	412					7.53189e-24	7.65296e-24	1	1	0
TECTB	6975	broad.mit.edu	37	10	114053581	114053581	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:114053581C>G	ENST00000369422.3	+	5	569	c.569C>G	c.(568-570)gCc>gGc	p.A190G		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	190	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAGTGGAAGCCAAAGGGTTA	0.383000													28	39					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188223	7188223	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:7188223G>A	ENST00000486284.1	+	2	878	c.604G>A	c.(604-606)Gat>Aat	p.D202N	GRM7_ENST00000403881.1_Missense_Mutation_p.D202N|GRM7_ENST00000357716.4_Missense_Mutation_p.D202N|GRM7_ENST00000389336.4_Missense_Mutation_p.D202N|GRM7_ENST00000402647.2_Missense_Mutation_p.D202N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	202					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGTGCCACCCGATTCCTTCCA	0.512000													36	90					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													4	28					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272629	158272629	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:158272629C>T	ENST00000264192.3	-	8	761	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CYTIP_ENST00000540637.1_Missense_Mutation_p.E108K	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	214					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCCATGTTTTCCAAACTGGGG	0.458000													19	42					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521124	86521124	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:86521124G>A	ENST00000450689.2	-	21	3131	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	KIAA1324L_ENST00000416314.1_Silent_p.I815I|KIAA1324L_ENST00000444627.1_Silent_p.I911I|KIAA1324L_ENST00000297222.6_Silent_p.I742I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	982						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTCCTTCCATGATAGCACAAC	0.358000													20	40					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043986	119043986	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:119043986G>A	ENST00000334464.5	-	5	2497	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	753					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTCAATTTGGAAAGGTATTC	0.428000													24	35					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100367345	100367345	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:100367345G>A	ENST00000262233.6	+	9	1116	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	EML1_ENST00000327921.9_Missense_Mutation_p.R314Q|EML1_ENST00000334192.4_Missense_Mutation_p.R345Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	326						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTTTTGACCGAGCAGTCACC	0.438000													40	86					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14989377	14989377	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:14989377C>T	ENST00000287667.7	+	31	3715	c.3544C>T	c.(3544-3546)Cct>Tct	p.P1182S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1182						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTAGCTCATTCCTTTGCTGCT	0.537000													60	455					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433090	179433090	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179433090G>A	ENST00000589042.1	-	326	77993	c.77769C>T	c.(77767-77769)atC>atT	p.I25923I	TTN_ENST00000342992.6_Silent_p.I23355I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I16858I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.I24282I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I16983I|TTN_ENST00000342175.6_Silent_p.I17050I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24282			A -> V.				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)			TGTAGTTGGTGATTTGGCAGC	0.403000													19	41					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168314949	168314949	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:168314949G>A	ENST00000366806.2	+	16	2281	c.2139G>A	c.(2137-2139)ctG>ctA	p.L713L	MLLT4_ENST00000447894.2_Silent_p.L713L|MLLT4_ENST00000392112.1_Silent_p.L697L|MLLT4_ENST00000344191.4_Silent_p.L713L|MLLT4_ENST00000392108.3_Silent_p.L713L|MLLT4_ENST00000400822.3_Silent_p.L712L|MLLT4_ENST00000351017.4_Silent_p.L720L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	713	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGATCACACTGGATGCTCAAG	0.393000			T	MLL	AL								11	60					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9987392	9987392	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:9987392C>T	ENST00000506583.1	-	6	566	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	SLC2A9_ENST00000264784.3_Missense_Mutation_p.G146R|SLC2A9_ENST00000309065.3_Missense_Mutation_p.G117R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	146					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATTGCAAACCCATTATTGGCC	0.498000													18	73					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228939	21228939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:21228939G>A	ENST00000233242.1	-	26	10928	c.10801C>T	c.(10801-10803)Cag>Tag	p.Q3601*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3601					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCATGGACCTGAACAAGAGCT	0.488000													21	67					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106320822	106320822	+	RNA	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:106320822C>T	ENST00000390559.2	-	0	987																											AAGTAGACATCGGGCCTGTGC	0.667000													7	14					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196738347	196738347	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:196738347C>T	ENST00000312428.6	-	39	6458	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2120	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTATCACTAAACTCA	0.274000													18	41					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6958589	6958589	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:6958589C>T	ENST00000389658.3	-	55	7944	c.7851G>A	c.(7849-7851)acG>acA	p.T2617T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2617	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.T2617T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACATTTATCGTCCTGCTTT	0.428000													10	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604119	179604119	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179604119T>A	ENST00000589042.1	-	48	14065	c.13841A>T	c.(13840-13842)gAc>gTc	p.D4614V	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D4251V|TTN_ENST00000591111.1_Missense_Mutation_p.D4297V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D4376V|TTN_ENST00000342175.6_Missense_Mutation_p.D4443V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4297	Ig-like 26.						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)			AGAAACAGTGTCCACTAAAGG	0.418000													25	60					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185200722	185200722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:185200722C>T	ENST00000367500.4	+	16	2488	c.2323C>T	c.(2323-2325)Caa>Taa	p.Q775*	SWT1_ENST00000367501.3_Nonsense_Mutation_p.Q775*	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	775										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GGATGTATTTCAAAGATTGGG	0.303000													25	71					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97702552	97702552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:97702552G>A	ENST00000275053.4	-	10	1265	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.R334*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	334					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATCTTCTTCGGTCACTTGAT	0.353000													9	41					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282808	39282808	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:39282808G>A	ENST00000373229.5	-	6	913	c.900C>T	c.(898-900)ttC>ttT	p.F300F	KCNK16_ENST00000373227.4_Silent_p.F253F|KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Silent_p.F188F	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	300						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGGATATGGGGAAGTCCTGGG	0.597000													31	67					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57973383	57973383	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:57973383C>T	ENST00000564448.1	-	16	1365	c.1305G>A	c.(1303-1305)gcG>gcA	p.A435A	CNGB1_ENST00000251102.8_Silent_p.A441A|CNGB1_ENST00000564654.1_5'UTR			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	441					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ccttggtctccgcccagtcct	0.612000													13	44					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853587	88853587	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:88853587G>A	ENST00000537554.1	-	2	4969	c.1407C>T	c.(1405-1407)gcC>gcT	p.A469A	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.A469A|CNR1_ENST00000468898.1_Silent_p.A436A|CNR1_ENST00000369501.2_Silent_p.A469A|CNR1_ENST00000549890.1_Silent_p.A469A|CNR1_ENST00000535130.1_Silent_p.A469A|CNR1_ENST00000549716.1_Silent_p.A408A|CNR1_ENST00000428600.2_Silent_p.A469A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	469					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACAGAGCCTCGGCAGACGTGT	0.468000													61	191					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170038842	170038842	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:170038842C>T	ENST00000284637.9	-	9	1950	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	537	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCAGGCCCTCCTGCCGTGGAA	0.587000													19	50					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64676807	64676807	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:64676807G>A	ENST00000421419.2	-	15	2254	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	ATG2A_ENST00000377264.3_Missense_Mutation_p.P714S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	714							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGCAGGCAAGGGACAGGTGGC	0.587000													22	60					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103866894	103866894	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:103866894G>A	ENST00000302251.5	-	3	842	c.391C>T	c.(391-393)Cct>Tct	p.P131S	PDGFD_ENST00000393158.2_Missense_Mutation_p.P137S	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	137	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ATCCTTGGAGGAACTTCCTTG	0.358000													30	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578785	179578785	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179578785C>T	ENST00000589042.1	-	92	26824	c.26600G>A	c.(26599-26601)gGa>gAa	p.G8867E	TTN_ENST00000342992.6_Missense_Mutation_p.G7623E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8550E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8550	Ig-like 71.						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)			TAGCTCTTTTCCATCCTTAAA	0.433000													13	26					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43015929	43015929	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:43015929G>A	ENST00000361740.4	-	9	854	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CYB5R3_ENST00000407623.3_Silent_p.F229F|CYB5R3_ENST00000396303.3_Silent_p.F229F|CYB5R3_ENST00000402438.1_Silent_p.F229F|CYB5R3_ENST00000407332.1_Silent_p.F229F|CYB5R3_ENST00000352397.5_Silent_p.F252F	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	252					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	CCTCATTCACGAAGCCCTGGC	0.632000													3	11					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31818595	31818595	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:31818595C>T	ENST00000382902.1	-	6	942	c.850G>A	c.(850-852)Gag>Aag	p.E284K	OTUD7A_ENST00000307050.4_Missense_Mutation_p.E277K			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	277	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTGCGCGGCTCGCTGGAGGCC	0.682000													3	17					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848128	166848128	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:166848128C>T	ENST00000423058.2	-	26	5674	c.5657G>A	c.(5656-5658)cGa>cAa	p.R1886Q	SCN1A_ENST00000375405.3_Missense_Mutation_p.R1875Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1886Q|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1858Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCTGTATTCGTAGAGCATC	0.443000													21	67					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922526	31922526	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31922526G>A	ENST00000375429.3	-	7	774	c.548C>T	c.(547-549)cCc>cTc	p.P183L	NELFE_ENST00000444811.2_Missense_Mutation_p.P153L|NELFE_ENST00000375425.5_Missense_Mutation_p.P190L	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		GCGGCTTCGGGGAGGGGAGGC	0.657000													25	66					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798406	99798406	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:99798406C>T	ENST00000426455.1	+	19	2282	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	STAG3_ENST00000394018.2_Silent_p.F567F|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.F625F|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	625					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAGCTGTTCCTGCAGCAAC	0.567000													17	66					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53264572	53264572	+	Silent	SNP	G	G	A	rs145719162		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:53264572G>A	ENST00000462138.1	-	8	1096	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	TKT_ENST00000423525.2_Silent_p.I336I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I344I|TKT_ENST00000296289.6_Silent_p.I289I			P29401	TKT_HUMAN	transketolase	336					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CATCCAGGGCGATGATGCGGT	0.582000													31	55					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100530031	100530031	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:100530031G>A	ENST00000457717.1	+	13	1922	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	MTTP_ENST00000265517.5_Missense_Mutation_p.D556N|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.D583N	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	556	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATCCTACATGGACGTCAAGAA	0.418000													48	103					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198700853	198700853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:198700853C>T	ENST00000367376.2	+	18	2137	c.1966C>T	c.(1966-1968)Cag>Tag	p.Q656*	PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q497*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q658*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q608*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q495*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	656	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q656*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGCTGAATTTCAGGTGTGTGT	0.343000													19	71					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925764	70925764	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:70925764G>A	ENST00000603540.1	+	2	1806	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ADAM21_ENST00000267499.3_Silent_p.E516E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	516	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGCAGGGAGATTTTTGGTA	0.418000													32	89					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949128	27949128	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:27949128G>A	ENST00000379992.2	-	6	1991	c.1542C>T	c.(1540-1542)acC>acT	p.T514T	LINGO2_ENST00000308675.3_Silent_p.T514T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	514						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTACATAGGGGTCCTGTTCG	0.448000													37	58					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109486135	109486135	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:109486135G>A	ENST00000369971.2	-	6	793	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CLCC1_ENST00000356970.2_Silent_p.L222L|CLCC1_ENST00000348264.2_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000415331.1_Silent_p.L172L|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000369970.3_Silent_p.L172L	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	222						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AAACTGAACAGAAAGCTGATG	0.368000													63	103					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542495	10542495	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:10542495G>A	ENST00000583535.1	-	25	3201	c.3114C>T	c.(3112-3114)tcC>tcT	p.S1038S	MYH3_ENST00000226209.7_Silent_p.S1038S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1038					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTGTTCTAGGGAGCTTTCCA	0.473000													36	44					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154777	9154777	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:9154777G>A	ENST00000382496.5	-	12	1969	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	435	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGATTCAGGGGTACCCGCAC	0.512000													43	96					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486937	125486937	+	Silent	SNP	C	C	T	rs140014211		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:125486937C>T	ENST00000259466.1	+	1	669	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I223I(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGCAAATCATCGTCACTGTGC	0.542000													60	400					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923100	158923100	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:158923100C>T	ENST00000367097.3	+	13	3762	c.2405C>T	c.(2404-2406)gCc>gTc	p.A802V	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	802					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGAAGTCAGCCAAGGCCCTG	0.667000													19	71					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82937001	82937001	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:82937001G>A	ENST00000306270.7	-	5	1111	c.562C>T	c.(562-564)Cac>Tac	p.H188Y	IBTK_ENST00000503631.1_Missense_Mutation_p.H188Y|IBTK_ENST00000510291.1_Missense_Mutation_p.H188Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	188					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACACGGAGTGAAATTTACAA	0.358000													29	66					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873664	48873664	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:48873664C>T	ENST00000394754.1	+	8	2687	c.2573C>T	c.(2572-2574)cCa>cTa	p.P858L	GTF2A1L_ENST00000403751.3_Missense_Mutation_p.P154L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P811L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P858L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P858L|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.P120L|LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P858L	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		811					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCAGCATCCAATTCAGCAA	0.378000													35	74					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22057192	22057192	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:22057192C>T	ENST00000256906.4	+	3	939	c.839C>T	c.(838-840)tCc>tTc	p.S280F	HRH4_ENST00000426880.2_Missense_Mutation_p.S192F	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	280						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	GGTTCCTTCTCCCAATCAGAT	0.428000													54	136					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204622	9204622	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9204622G>A	ENST00000429566.3	+	1	768	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAGGCGGCAGGAAGAAAGCCT	0.582000													58	83					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200468	31200468	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:31200468C>T	ENST00000254108.7	+	9	962	c.857C>T	c.(856-858)aCc>aTc	p.T286I	FUS_ENST00000568685.1_Missense_Mutation_p.T287I|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.T285I	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	286	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GACAACAACACCATCTTTGTG	0.388000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								65	164					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5642988	5642988	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:5642988G>A	ENST00000382361.3	+	2	1047	c.933G>A	c.(931-933)acG>acA	p.T311T	FSCN1_ENST00000340250.6_Silent_p.T290T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	311					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTACCCACACGGGCAAGTACT	0.642000													4	168					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168802779	168802779	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:168802779G>A	ENST00000464456.1	-	15	4247	c.3047C>T	c.(3046-3048)tCc>tTc	p.S1016F	MECOM_ENST00000494292.1_Missense_Mutation_p.S1204F|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000472280.1_Missense_Mutation_p.S1026F|MECOM_ENST00000468789.1_Missense_Mutation_p.S1025F|MECOM_ENST00000433243.2_Missense_Mutation_p.S1026F|MECOM_ENST00000392736.3_Missense_Mutation_p.S1025F|MECOM_ENST00000264674.3_Missense_Mutation_p.S1090F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGAACTGTGGGATGTAGAATG	0.488000													47	97					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15663088	15663088	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:15663088G>A	ENST00000338950.5	-	1	118	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	DTNBP1_ENST00000344537.5_Missense_Mutation_p.L5F|DTNBP1_ENST00000355917.3_Missense_Mutation_p.L5F	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	5					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CGCTCGCGAAGGGTCTCCAGC	0.721000									Hermansky-Pudlak syndrome				39	137					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9107695	9107695	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:9107695G>A	ENST00000377424.4	-	4	571	c.392C>T	c.(391-393)tCc>tTc	p.S131F	SLC2A5_ENST00000536305.1_Missense_Mutation_p.S72F|SLC2A5_ENST00000377414.3_Missense_Mutation_p.S131F|SLC2A5_ENST00000535586.1_Missense_Mutation_p.S16F	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	131					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAAGTCTGGAAATAATGAT	0.458000													122	126					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:189587118C>T	ENST00000264731.3	+	9	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	379	Interaction with HIPK2.				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	p.R379C(1)		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)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)			15	65					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501855	28501855	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:28501855A>G	ENST00000412168.2	+	5	666	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	193					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GCCTGATGGAATCCCTGTCAT	0.498000													41	94					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102487043	102487043	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:102487043C>T	ENST00000321521.9	+	9	1566	c.993C>T	c.(991-993)tcC>tcT	p.S331S	PPIP5K2_ENST00000358359.3_Silent_p.S331S|PPIP5K2_ENST00000414217.1_Silent_p.S331S|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	331					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAAAAATTCCATGAAGTATT	0.313000													18	30					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268307	1268307	+	Silent	SNP	C	C	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:1268307C>A	ENST00000447027.1	+	31	10264	c.10206C>A	c.(10204-10206)gcC>gcA	p.A3402A	MUC5B_ENST00000529681.1_Silent_p.A3399A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3399	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cgatcacagccaccggctcca	0.622000													5	16					0.014758	0.0147747	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215898	20215898	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:20215898C>T	ENST00000331723.1	+	1	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATCTACTTCCTCCACTTTC	0.483000													20	37					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377495	97377495	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:97377495T>C	ENST00000264963.4	-	6	704	c.682A>G	c.(682-684)Att>Gtt	p.I228V	LMAN2L_ENST00000534882.1_Missense_Mutation_p.I83V|LMAN2L_ENST00000537039.1_Missense_Mutation_p.I90V|LMAN2L_ENST00000377079.4_Missense_Mutation_p.I239V|LMAN2L_ENST00000426463.2_Missense_Mutation_p.I94V	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	228	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TTGCCATCAATATCCATCATT	0.542000													22	57					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128002	83128002	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:83128002G>A	ENST00000329312.4	+	4	323	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	96					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGCTGCCAGGGAACAGACTCC	0.373000													13	10					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587996	247587996	+	Silent	SNP	C	C	T	rs139852370		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:247587996C>T	ENST00000366497.2	+	4	2031	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	NLRP3_ENST00000391827.2_Silent_p.I417I|NLRP3_ENST00000391828.3_Silent_p.I417I|NLRP3_ENST00000336119.3_Silent_p.I417I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.I417I|NLRP3_ENST00000366496.2_Silent_p.I417I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	417	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGCTGGATCGTGTGCACTG	0.552000													24	72					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152499796	152499796	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:152499796C>T	ENST00000427231.2	-	58	8230	c.8028G>A	c.(8026-8028)gaG>gaA	p.E2676E	NEB_ENST00000397345.3_Silent_p.E2676E|NEB_ENST00000409198.1_Silent_p.E2676E|NEB_ENST00000604864.1_Silent_p.E2676E|NEB_ENST00000603639.1_Silent_p.E2676E|NEB_ENST00000172853.10_Silent_p.E2676E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2676					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)		GTTTATTTTTCTCATCCTCGA	0.413000													45	92					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96320195	96320195	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:96320195C>T	ENST00000277165.6	+	14	2765	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F	FAM120A_ENST00000340893.4_Silent_p.F857F|FAM120A_ENST00000333936.5_Silent_p.F885F	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	857	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCTCCCTTTCCCGCCGCCAC	0.652000													8	7					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61460144	61460144	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:61460144G>A	ENST00000343916.3	+	18	932	c.929G>A	c.(928-930)gGc>gAc	p.G310D		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	310	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGCCAGAATGGCGTGCCAGGA	0.697000													18	54					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170108836	170108836	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:170108836T>G	ENST00000458537.3	+	5	2393	c.1684T>G	c.(1684-1686)Ttg>Gtg	p.L562V	SKIL_ENST00000259119.4_Missense_Mutation_p.L562V|SKIL_ENST00000426052.2_Missense_Mutation_p.L542V|SKIL_ENST00000413427.2_Missense_Mutation_p.L516V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	562					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGTAAAAATGTTGAGTAGTTC	0.313000													11	33					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772531	145772531	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:145772531G>A	ENST00000276826.5	-	4	2140	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P647S|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P647S			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	647					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGTAGGGCTCTGGTGAG	0.662000													9	17					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433790	40433790	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:40433790G>A	ENST00000221347.6	-	2	486	c.479C>T	c.(478-480)gCc>gTc	p.A160V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	160	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCACCACGGCAAACTCCTT	0.602000													32	103					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25027774	25027774	+	Missense_Mutation	SNP	G	G	A	rs35274308	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:25027774G>A	ENST00000381989.3	-	23	2882	c.2777C>T	c.(2776-2778)tCg>tTg	p.S926L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	926	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTTAGGATACGAAAATAGCTC	0.423000													24	75					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922615	37922615	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:37922615G>A	ENST00000346872.3	-	8	1019	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	IKZF3_ENST00000377944.3_Silent_p.L177L|IKZF3_ENST00000377945.3_Silent_p.L186L|IKZF3_ENST00000439167.2_Silent_p.L247L|IKZF3_ENST00000351680.3_Silent_p.L281L|IKZF3_ENST00000377952.2_Silent_p.L99L|IKZF3_ENST00000346243.3_Silent_p.L242L|IKZF3_ENST00000583368.1_Silent_p.L73L|IKZF3_ENST00000377958.2_Silent_p.L233L|IKZF3_ENST00000467757.1_Silent_p.L264L|IKZF3_ENST00000535189.1_Silent_p.L286L|IKZF3_ENST00000439016.2_Silent_p.L225L|IKZF3_ENST00000394189.2_Silent_p.L138L|IKZF3_ENST00000350532.3_Silent_p.L281L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	320					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGGGGCGCAGGGCTTCGGCG	0.532000													39	55					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119200	3119200	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3119200G>A	ENST00000525643.2	+	7	743	c.411G>A	c.(409-411)ctG>ctA	p.L137L	IL32_ENST00000551513.1_Silent_p.L174L|IL32_ENST00000530890.1_Silent_p.L117L|IL32_ENST00000396890.2_Silent_p.L183L|IL32_ENST00000551122.1_Intron|IL32_ENST00000548246.1_Silent_p.L97L|IL32_ENST00000548476.1_Silent_p.L183L|IL32_ENST00000552936.1_Silent_p.L161L|IL32_ENST00000444393.3_Silent_p.L137L|IL32_ENST00000534507.1_Silent_p.L183L|IL32_ENST00000440815.3_Silent_p.L137L|IL32_ENST00000533097.2_Silent_p.L137L|IL32_ENST00000531965.1_Silent_p.L127L|IL32_ENST00000529699.1_Silent_p.L117L|IL32_ENST00000548652.1_Silent_p.L128L|IL32_ENST00000549213.1_Intron|IL32_ENST00000529550.1_Silent_p.L137L|IL32_ENST00000528163.2_Silent_p.L137L|IL32_ENST00000526464.2_Silent_p.L137L|IL32_ENST00000325568.5_Silent_p.L137L|IL32_ENST00000382213.3_Silent_p.L128L|IL32_ENST00000008180.9_Silent_p.L117L|IL32_ENST00000530538.2_Silent_p.L137L|IL32_ENST00000552664.1_Silent_p.L137L|IL32_ENST00000396887.3_Intron|IL32_ENST00000552356.1_Silent_p.L117L			P24001	IL32_HUMAN	interleukin 32	183					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.L137L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGGTGGCCCTGGTCCATGCAG	0.592000													16	88					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117570	11117570	+	Missense_Mutation	SNP	C	C	T	rs141186137		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:11117570C>T	ENST00000304623.8	-	13	2458	c.2269G>A	c.(2269-2271)Gat>Aat	p.D757N	CTNND2_ENST00000458100.2_Missense_Mutation_p.D324N|CTNND2_ENST00000359640.2_Missense_Mutation_p.D757N|CTNND2_ENST00000503622.1_Missense_Mutation_p.D420N|CTNND2_ENST00000511377.1_Missense_Mutation_p.D666N|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	757					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.D757H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCTTGCTATCGATCTCACTG	0.522000													35	111					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66568506	66568506	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:66568506G>C	ENST00000360962.4	+	8	785	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	C11orf80_ENST00000525449.2_Missense_Mutation_p.E105Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.E94Q|C11orf80_ENST00000527634.1_Missense_Mutation_p.E41Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.E105Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.E41Q	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	105										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TTGCAGGGTGGAGAATGAACC	0.453000													9	42					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333069	70333069	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:70333069C>T	ENST00000373644.4	+	2	1183	c.974C>T	c.(973-975)tCt>tTt	p.S325F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	325					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCTCCTACCTCTGTAATAAAA	0.453000													53	73					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569741	142569741	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:142569741C>T	ENST00000359396.3	-	15	2142	c.1895_splice	c.e15-1	p.V633_splice		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	633					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGTCTTCCACCCTGTGGAAT	0.557000													34	82					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82321712	82321712	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:82321712C>T	ENST00000376520.4	+	11	1662	c.834C>T	c.(832-834)ggC>ggT	p.G278G	TLE4_ENST00000265284.6_Silent_p.G253G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.G278G|TLE4_ENST00000376552.2_Silent_p.G278G			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						GAGAGAATGGCCTAGACAAGA	0.502000													56	94					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662882	77662882	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:77662882G>A	ENST00000296043.6	+	5	4509	c.3556G>A	c.(3556-3558)Ggg>Agg	p.G1186R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1186					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACGGCGACGCGGGGACCTGCT	0.706000													4	5					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10913099	10913099	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:10913099G>A	ENST00000283141.6	+	14	1307		c.e14-1		RP11-637O19.3_ENST00000480294.1_Splice_Site|SYCP2L_ENST00000543878.1_Splice_Site	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like							nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTTTCCCAAGAATACTCTAT	0.358000													12	40					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568488	43568488	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:43568488G>A	ENST00000216129.6	-	10	1477	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	472	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ACGATGTAGCGGATGTCGAAC	0.572000													27	95					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32937423	32937423	+	Missense_Mutation	SNP	C	C	T	rs80359048		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:32937423C>T	ENST00000544455.1	+	18	8311	c.8084C>T	c.(8083-8085)tCa>tTa	p.S2695L	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2695L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2695					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2695*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACATAATTTCATTGAGCGCA	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			32	74					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6758923	6758923	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:6758923G>A	ENST00000378827.4	+	3	1597	c.378G>A	c.(376-378)ggG>ggA	p.G126G		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	126					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AAACGAGTGGGAAAACAACCC	0.393000													16	51					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104985	168104985	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:168104985G>A	ENST00000409195.1	+	9	7172	c.7083G>A	c.(7081-7083)tcG>tcA	p.S2361S	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S2139S|XIRP2_ENST00000295237.9_Silent_p.S2361S|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2186					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGTTCATCGATGTTTCTGC	0.488000													58	126					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814194	214814194	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:214814194C>T	ENST00000366955.3	+	12	2681	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	838					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTTGAATTTTCATTAGAGTCT	0.388000													11	39					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311436	48311436	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:48311436C>G	ENST00000435803.1	+	17	2197	c.2173C>G	c.(2173-2175)Ctt>Gtt	p.L725V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	725					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTGCACACCCTTGAGGATGA	0.284000													6	7					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	192011397	192011397	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:192011397G>A	ENST00000392320.2	-	3	529	c.215C>T	c.(214-216)tCc>tTc	p.S72F	STAT4_ENST00000409995.1_Missense_Mutation_p.S72F|STAT4_ENST00000358470.4_Missense_Mutation_p.S72F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	72					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTTCTCTTTGGAAACACGACC	0.338000													14	30					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113498400	113498400	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:113498400G>A	ENST00000541405.1	-	8	2035	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000302450.6_Silent_p.I669I			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	669						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTACCTAGGGATTGGACCAA	0.428000													91	247					0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49316733	49316733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:49316733G>A	ENST00000263278.4	-	8	885	c.619C>T	c.(619-621)Cga>Tga	p.R207*	HSD17B14_ENST00000599157.1_Nonsense_Mutation_p.R183*	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	207					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		ATGCCCTCTCGGATTGTGGCC	0.612000													20	22					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379675	107379675	+	Missense_Mutation	SNP	C	C	T	rs143297558		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:107379675C>T	ENST00000259362.1	-	1	810	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCCAAGTCATCTGAATTAAGT	0.398000													32	91					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672577	151672577	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:151672577G>A	ENST00000402676.2	+	4	3291	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E	AKAP12_ENST00000359755.5_Silent_p.E912E|AKAP12_ENST00000253332.1_Silent_p.E1017E|AKAP12_ENST00000354675.6_Silent_p.E919E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1017					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACACCACAGAGGAGGCCACTC	0.562000													23	35					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	601395	601395	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:601395C>T	ENST00000219611.2	+	8	2523	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		ATGCCTACTCCATCCTGGATG	0.657000													51	87					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73945388	73945388	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:73945388G>A	ENST00000553558.1	-	18	3325	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	HEATR4_ENST00000334988.2_Silent_p.L1002L|HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Silent_p.L955L	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AATTTACCCAGATAAAGAGCT	0.438000													33	76					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085537	87085537	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:87085537G>A	ENST00000390655.6	-	2	104	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.L16F|CD8B_ENST00000393761.2_Missense_Mutation_p.L16F|CD8B_ENST00000393759.2_Missense_Mutation_p.L16F|CD8B_ENST00000349455.3_Missense_Mutation_p.L16F	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	16					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TTGCCATGGAGAACTAGGAAA	0.488000													23	40					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78308994	78308994	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:78308994C>T	ENST00000409931.3	-	8	1740	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.D557N			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	557						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGCCCCTGGTCTTCTGAGCAC	0.507000													13	17					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	993963	993963	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:993963C>T	ENST00000448903.2	+	13	1901	c.1760C>T	c.(1759-1761)aCc>aTc	p.T587I	AP2A2_ENST00000332231.5_Missense_Mutation_p.T588I|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	587					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGCTCAGCACCGTGGCCAGC	0.662000													16	30					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687412	18687412	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:18687412C>T	ENST00000406451.3	+	10	1181	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	HDAC9_ENST00000524023.1_Missense_Mutation_p.S267L|HDAC9_ENST00000406072.1_Missense_Mutation_p.S331L|HDAC9_ENST00000405010.3_Missense_Mutation_p.S344L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S342L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S303L|HDAC9_ENST00000432645.2_Missense_Mutation_p.S344L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S347L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S316L|HDAC9_ENST00000428307.2_Missense_Mutation_p.S300L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	344					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACACAGGCTTCGAATTCACTC	0.473000													6	25					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169622328	169622328	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:169622328C>T	ENST00000366787.3	-	20	3486	c.3237G>A	c.(3235-3237)agG>agA	p.R1079R	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1079	TSP C-terminal.				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)		ACAGCGCGTTCCTCAGGTGCT	0.667000													29	49					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60504852	60504852	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:60504852G>A	ENST00000360469.5	+	13	2279	c.2191G>A	c.(2191-2193)Ggc>Agc	p.G731S	CDH4_ENST00000543233.1_Missense_Mutation_p.G657S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	731					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGCTGGTCTGGGCACCGGTGC	0.612000													31	103					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130002784	130002784	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:130002784C>T	ENST00000485477.1	+	8	1825	c.696C>T	c.(694-696)atC>atT	p.I232I	CPA5_ENST00000474905.1_Silent_p.I232I|CPA5_ENST00000466363.2_Silent_p.I232I|CPA5_ENST00000393213.3_Silent_p.I232I|CPA5_ENST00000461828.1_Silent_p.I232I|CPA5_ENST00000431780.2_Silent_p.I232I|CPA5_ENST00000355388.3_Silent_p.I232I			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	232					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCATGGACATCTTCATAGAGC	0.522000													9	42					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259502	151259502	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151259502C>T	ENST00000368879.2	+	2	833	c.735C>T	c.(733-735)gcC>gcT	p.A245A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	245	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTAAGGCCACGGACATCC	0.637000													54	146					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717512	13717512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13717512C>T	ENST00000265104.4	-	73	12721	c.12617G>A	c.(12616-12618)tGg>tAg	p.W4206*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4206	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGGATATTCCACCCCAGGGC	0.547000									Kartagener syndrome				16	37					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5729895	5729895	+	Silent	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:5729895T>C	ENST00000381624.3	+	4	277	c.216T>C	c.(214-216)ttT>ttC	p.F72F	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	72						integral to membrane											AACAAGTTTTTTTCACAATGG	0.318000													24	38					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911274	89911274	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:89911274G>A	ENST00000534061.1	+	16	2077	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	NAALAD2_ENST00000321955.4_Missense_Mutation_p.G583E|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	616					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACAGACCATGGAGTATCATTT	0.303000													37	89					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30046618	30046618	+	Silent	SNP	G	G	A	rs143388121		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:30046618G>A	ENST00000331968.5	-	18	2794	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	PRKD1_ENST00000415220.2_Silent_p.I863I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	855					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.I855I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGCGCTCCCCGATTTTGCATT	0.468000													33	53					0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131095783	131095783	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:131095783C>T	ENST00000300452.3	+	7	980	c.657C>T	c.(655-657)atC>atT	p.I219I	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	219					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CGGAGTTGATCCCATGGGCCG	0.617000													25	68					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43610098	43610098	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:43610098C>T	ENST00000360835.3	-	16	2177	c.2051G>A	c.(2050-2052)gGa>gAa	p.G684E		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	684					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCACTTGCCTCCACATTCCGA	0.662000													11	29					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125609479	125609479	+	Silent	SNP	G	G	A	rs147156760		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:125609479G>A	ENST00000316519.6	+	12	1424	c.1218G>A	c.(1216-1218)acG>acA	p.T406T	AACS_ENST00000545511.1_5'UTR|AACS_ENST00000316543.10_Silent_p.T4T|AACS_ENST00000261686.6_Silent_p.T406T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	406					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTCCACACGATCCTGTCCA	0.542000													30	60					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43664154	43664154	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:43664154C>T	ENST00000372492.4	+	8	1589	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	WDR65_ENST00000528956.1_Missense_Mutation_p.T422I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	422										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTCACAGCACCCTGGAACTA	0.383000													8	31					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157556172	157556172	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:157556172G>A	ENST00000271532.1	-	6	1056	c.921C>T	c.(919-921)gtC>gtT	p.V307V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	307	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCAGACAAGGACCAGCATCT	0.597000													23	95					0	0	1	0	0
TREH	11181	broad.mit.edu	37	11	118531981	118531981	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:118531981C>T	ENST00000529101.1	-	8	790	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	TREH_ENST00000530256.1_Missense_Mutation_p.E126K|TREH_ENST00000525958.1_Missense_Mutation_p.E218K|TREH_ENST00000397925.1_Missense_Mutation_p.E218K|TREH_ENST00000264029.4_Missense_Mutation_p.E249K			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	249					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GCTAGTGTTTCAATGTTTTCC	0.532000													21	45					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77059387	77059387	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:77059387G>A	ENST00000538941.2	-	11	1492	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCAPER_ENST00000563290.1_Missense_Mutation_p.R431C|SCAPER_ENST00000324767.7_Missense_Mutation_p.R431C	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	430						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTTTCTAGACGATCTGCTAGC	0.338000													7	13					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34182916	34182916	+	Missense_Mutation	SNP	G	G	A	rs142055675		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:34182916G>A	ENST00000297161.2	+	15	2194	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	BMPER_ENST00000426693.1_Missense_Mutation_p.R607Q	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	607					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCATATACCCGGGCCTGCCAG	0.463000													39	53					0	0	1	0	0
PSKH1	5681	broad.mit.edu	37	16	67942837	67942837	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:67942837G>A	ENST00000291041.5	+	2	355	c.185G>A	c.(184-186)tGc>tAc	p.C62Y		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	62						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GCACACCCCTGCCCCGGTCCC	0.597000													19	47					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545252	82545252	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:82545252T>A	ENST00000423517.2	-	7	12387	c.12050A>T	c.(12049-12051)gAa>gTa	p.E4017V	PCLO_ENST00000437081.1_Missense_Mutation_p.E737V|PCLO_ENST00000333891.8_Missense_Mutation_p.E4017V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3948					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTACTTCTTTCCTCCAAACC	0.388000													72	164					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316190	125316190	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:125316190C>T	ENST00000373688.2	+	1	800	c.742C>T	c.(742-744)Cct>Tct	p.P248S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CATCTCATCTCCTGGAGGGAG	0.502000													38	162					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10228256	10228256	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:10228256C>T	ENST00000377157.3	+	23	3587	c.2526C>T	c.(2524-2526)ctC>ctT	p.L842L	UBE4B_ENST00000343090.6_Silent_p.L1087L|UBE4B_ENST00000253251.8_Silent_p.L958L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1087					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCTCTTACCTCGCCCTGGCCA	0.587000													15	44					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35814581	35814581	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:35814581C>T	ENST00000356031.3	+	37	5549	c.5395C>T	c.(5395-5397)Ctc>Ttc	p.L1799F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.L596F	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1799					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAAATAATTCTCCAAAGGAG	0.294000													7	29					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30864855	30864855	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:30864855G>A	ENST00000324771.8	+	16	2482	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H	DDR1_ENST00000418800.2_Missense_Mutation_p.R608H|DDR1_ENST00000376568.3_Missense_Mutation_p.R645H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Missense_Mutation_p.R608H|DDR1_ENST00000508312.1_Missense_Mutation_p.R626H|DDR1_ENST00000452441.1_Missense_Mutation_p.R645H|DDR1_ENST00000361741.4_Missense_Mutation_p.R312H|DDR1_ENST00000376570.4_Missense_Mutation_p.R608H|DDR1_ENST00000376567.2_Missense_Mutation_p.R608H|DDR1_ENST00000513240.1_Missense_Mutation_p.R645H|DDR1_ENST00000376575.3_Missense_Mutation_p.R645H|DDR1_ENST00000454612.2_Missense_Mutation_p.R608H			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	645	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTTAATGTGCGTAAGGGACAC	0.542000													4	156					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100128082	100128082	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:100128082A>G	ENST00000395996.1	+	7	1028	c.917A>G	c.(916-918)gAt>gGt	p.D306G	VPS13B_ENST00000358544.2_Missense_Mutation_p.D306G|VPS13B_ENST00000355155.1_Missense_Mutation_p.D306G|VPS13B_ENST00000357162.2_Missense_Mutation_p.D306G|VPS13B_ENST00000441350.2_Missense_Mutation_p.D306G			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	306					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATAATAAAGATATGCTAGGA	0.279000													22	40					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326781	50326781	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:50326781G>A	ENST00000436390.1	-	11	1287	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	IFRD2_ENST00000336089.4_Missense_Mutation_p.R430W|IFRD2_ENST00000417626.2_Missense_Mutation_p.R264W|IFRD2_ENST00000429673.2_Missense_Mutation_p.R328W			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	328							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGGCAGCCGGGGCAGCTGC	0.622000													4	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644172	179644172	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179644172G>A	ENST00000589042.1	-	23	3971	c.3747C>T	c.(3745-3747)tcC>tcT	p.S1249S	TTN_ENST00000342992.6_Silent_p.S1249S|TTN_ENST00000460472.2_Silent_p.S1203S|TTN_ENST00000591111.1_Silent_p.S1249S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.S1203S|TTN_ENST00000360870.5_Silent_p.S1249S|TTN_ENST00000342175.6_Silent_p.S1203S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1249			S -> L (in dbSNP:rs1552280).				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)			TCTCTTCAAAGGAAGAAATAT	0.294000													4	15					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29365824	29365824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:29365824C>T	ENST00000343067.4	+	11	1649	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	EPB41_ENST00000373797.1_Nonsense_Mutation_p.R508*|EPB41_ENST00000373798.1_Nonsense_Mutation_p.R508*|EPB41_ENST00000373800.3_Nonsense_Mutation_p.R299*|EPB41_ENST00000356093.2_Nonsense_Mutation_p.R508*|EPB41_ENST00000349460.4_Nonsense_Mutation_p.R299*|EPB41_ENST00000347529.3_Nonsense_Mutation_p.R473*|EPB41_ENST00000398863.2_Nonsense_Mutation_p.R508*	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	508	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATCCAAATTTCGATACAGTGG	0.468000													100	113					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122091042	122091042	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:122091042C>T	ENST00000355329.3	-	4	757	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	196										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GATCATCGTCCCGCATTTGGC	0.617000													15	38					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50450145	50450145	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:50450145G>A	ENST00000442544.2	+	4	1382	c.766G>A	c.(766-768)Gat>Aat	p.D256N	DCC_ENST00000412726.1_Missense_Mutation_p.D104N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	256	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAAGGAAAAGATGCTGTCCT	0.423000													13	35					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110252	106110252	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:106110252G>A	ENST00000390545.2	-	0	365																											GTTTTGGGGGGAAGAGGAAGA	0.612000													38	101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411033	179411033	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179411033G>A	ENST00000589042.1	-	342	95249	c.95025C>T	c.(95023-95025)atC>atT	p.I31675I	TTN_ENST00000342992.6_Silent_p.I29107I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I22610I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.I30034I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I22735I|TTN_ENST00000342175.6_Silent_p.I22802I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30034	Fibronectin type-III 130.						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)			CACAGAACTTGATCACAGCAG	0.448000													65	150					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57931751	57931751	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:57931751C>T	ENST00000307658.7	+	4	1160	c.897C>T	c.(895-897)acC>acT	p.T299T	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.T297T			P17021	ZNF17_HUMAN	zinc finger protein 17	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GGATTCACACCAGGCCAAGGC	0.468000													62	92					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427398	76427398	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:76427398C>T	ENST00000357063.3	+	29	5951	c.4691C>T	c.(4690-4692)tCc>tTc	p.S1564F	LMO7_ENST00000465261.2_Missense_Mutation_p.S1279F|LMO7_ENST00000321797.8_Missense_Mutation_p.S1279F|LMO7_ENST00000341547.4_Missense_Mutation_p.S1230F|LMO7_ENST00000526202.1_Missense_Mutation_p.S1156F|LMO7_ENST00000377534.3_Missense_Mutation_p.S1564F			Q8WWI1	LMO7_HUMAN	LIM domain 7	1564						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACCCCTCCTCCAGCGTGCCC	0.597000													14	44					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55220249	55220249	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:55220249C>T	ENST00000275493.2	+	6	816	c.639C>T	c.(637-639)atC>atT	p.I213I	EGFR_ENST00000342916.3_Silent_p.I213I|EGFR_ENST00000344576.2_Silent_p.I213I|EGFR_ENST00000442591.1_Silent_p.I213I|EGFR_ENST00000454757.2_Silent_p.I160I|EGFR_ENST00000420316.2_Silent_p.I213I|EGFR_ENST00000455089.1_Silent_p.I168I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	213					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGACCAAAATCATCTGTGCCC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			127	326					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490960	157490960	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:157490960G>A	ENST00000361835.3	-	11	2519	c.2362C>T	c.(2362-2364)Cat>Tat	p.H788Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.H788Y|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	788	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGAAAAAACCGG	0.592000													39	96					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253276	24253276	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:24253276C>T	ENST00000538205.1	+	6	717	c.170C>T	c.(169-171)tCt>tTt	p.S57F	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.S136F|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.S57F	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	136					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S136Y(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAAAGAATTCTGTTGCCAGC	0.368000													18	35					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205550024	205550024	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:205550024C>T	ENST00000367147.4	+	3	758	c.665C>T	c.(664-666)gCc>gTc	p.A222V	MFSD4_ENST00000536357.1_Intron|MFSD4_ENST00000539267.1_Missense_Mutation_p.A222V	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	222					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTGTCCTATGCCTTCTGGATC	0.617000													14	29					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387810	46387810	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:46387810G>A	ENST00000302165.3	-	1	1566	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGGCCGCCGGGTGCCACCCA	0.721000													39	40					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011345	34011345	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:34011345G>A	ENST00000382499.2	-	31	3904	c.3905C>T	c.(3904-3906)cCt>cTt	p.P1302L	SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1263L|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P1247L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1302L|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1216L	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1263	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGGGACAAGAGGCTCTTGCAA	0.547000													76	171					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116414955	116414955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:116414955C>T	ENST00000397752.3	+	15	3249	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*	MET_ENST00000318493.6_Nonsense_Mutation_p.Q1035*	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1017					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAATTCATCTCAGAACGGTTC	0.393000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				21	42					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966399	41966399	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:41966399C>T	ENST00000298919.7	+	10	1426	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	PDZRN4_ENST00000539469.2_Silent_p.L348L|PDZRN4_ENST00000402685.2_Silent_p.L606L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	606							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGAGAGCCTCGTATCTGGTG	0.488000													22	50					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797050	33797050	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:33797050C>T	ENST00000257118.5	-	11	1955	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	PHC2_ENST00000373422.3_Silent_p.E240E|PHC2_ENST00000373418.3_Silent_p.E99E|PHC2_ENST00000373416.1_Silent_p.E99E|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.E605E|PHC2_ENST00000419414.2_Silent_p.E635E	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	634					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGAGCACCCTCCTCTTTGG	0.527000													53	170					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48595053	48595053	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:48595053G>A	ENST00000262384.3	-	2	1737	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	501					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ACTTCTTTGGGACTTGGAGAG	0.448000													40	120					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27946784	27946784	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:27946784C>T	ENST00000345068.5	-	3	419	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	CORO6_ENST00000388767.3_Missense_Mutation_p.R69Q|CORO6_ENST00000584969.1_Missense_Mutation_p.R69Q|CORO6_ENST00000580212.1_Missense_Mutation_p.R69Q|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000445145.2_Missense_Mutation_p.R69Q|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	69					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CTTATCCACTCGCCCTGTCTG	0.517000													37	65					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123339944	123339944	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:123339944G>A	ENST00000253083.4	+	11	1110	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	329					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCGCGGGGGAGCCAGTGGT	0.682000													4	5					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169639016	169639016	+	Missense_Mutation	SNP	C	C	T	rs140876134		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:169639016C>T	ENST00000428432.2	+	4	490	c.101C>T	c.(100-102)tCc>tTc	p.S34F	SAMD7_ENST00000335556.3_Missense_Mutation_p.S34F	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	34										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTATTGCCTTCCACCGTAGCT	0.393000													52	119					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169815742	169815742	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:169815742G>A	ENST00000335742.7	+	13	2996	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	PALLD_ENST00000505667.1_Missense_Mutation_p.E705K|CBR4_ENST00000509108.1_5'UTR|PALLD_ENST00000507735.1_Missense_Mutation_p.E218K|PALLD_ENST00000261509.6_Missense_Mutation_p.E705K|PALLD_ENST00000512127.1_Missense_Mutation_p.E323K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	929					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTTAACATACGAAGAAAGAAT	0.373000									Pancreatic Cancer, Familial Clustering of				16	20					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109046840	109046840	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:109046840C>T	ENST00000335658.6	-	7	964	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	304						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ATATTCTATTCCCATTGGAGG	0.373000													70	218					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317422	1317422	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:1317422G>A	ENST00000381567.3	-	5	642	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	215						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCATTACCCCGAATCTCGCCT	0.577000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								55	145					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318628	153318628	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:153318628G>A	ENST00000368739.3	-	3	447	c.89C>T	c.(88-90)tCa>tTa	p.S30L	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S30L			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	30					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCCCTCTGATACCTGTTT	0.473000													64	177					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764323	82764323	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:82764323G>A	ENST00000423517.2	-	3	2880	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	PCLO_ENST00000333891.8_Missense_Mutation_p.P848L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	794	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTTGTACGGGGTCAACTTG	0.453000													81	165					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209816	139209816	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:139209816G>A	ENST00000395297.1	-	8	936	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	256										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)			AAGTGGAGACGGAGACCCCGG	0.602000										HNSCC(54;0.14)			26	57					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170028587	170028587	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:170028587G>A	ENST00000263816.3	-	58	11486	c.11201C>T	c.(11200-11202)cCt>cTt	p.P3734L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3734	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAACGAAGAGGGATGCAGTG	0.468000													31	75					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629025	19629025	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:19629025G>A	ENST00000299295.2	+	2	670	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CHODL_ENST00000400131.1_Silent_p.G52G|CHODL_ENST00000400135.1_Silent_p.G52G|CHODL_ENST00000400128.1_Silent_p.G52G|CHODL_ENST00000338326.3_Silent_p.G52G|CHODL_ENST00000543733.1_Silent_p.G74G|CHODL_ENST00000400127.1_Silent_p.G52G	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	93	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CCGGGACAGGGATTTCTGATG	0.488000													43	102					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1987253	1987253	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:1987253C>T	ENST00000255608.4	-	7	1198		c.e7-1			NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2							cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTGAGAACCTGCCGTGGCA	0.617000													9	18					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200978057	200978057	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:200978057G>A	ENST00000332129.2	-	3	603	c.287C>T	c.(286-288)aCc>aTc	p.T96I	KIF21B_ENST00000461742.2_Missense_Mutation_p.T96I|KIF21B_ENST00000422435.2_Missense_Mutation_p.T96I|KIF21B_ENST00000360529.5_Missense_Mutation_p.T96I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	96	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTGCCCATGGTGTACGTCTT	0.627000													49	117					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744436	76744436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:76744436G>A	ENST00000369963.3	-	2	325	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	IMPG1_ENST00000369950.3_Nonsense_Mutation_p.Q124*			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	124					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACCCAGTCCTGATATTCCCCT	0.498000													22	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062082	9062082	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9062082G>A	ENST00000397910.4	-	3	25567	c.25364C>T	c.(25363-25365)tCc>tTc	p.S8455F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8457	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCCTAGAGGATATCACTTC	0.517000													71	81					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52847478	52847478	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:52847478G>A	ENST00000266041.4	-	24	2848	c.2752C>T	c.(2752-2754)Ccc>Tcc	p.P918S	ITIH4_ENST00000406595.1_Missense_Mutation_p.P888S|ITIH4_ENST00000485816.1_Missense_Mutation_p.P923S|ITIH4_ENST00000346281.5_Missense_Mutation_p.P902S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	918					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACTCCCGGGGGCCCCTCCTGG	0.572000													49	97					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119625972	119625972	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:119625972C>T	ENST00000313400.4	-	11	2030	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ASTN2_ENST00000361209.2_Missense_Mutation_p.D593N|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.D640N			O75129	ASTN2_HUMAN	astrotactin 2	644						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GACAGCAGGTCATTGATGGTT	0.493000													14	45					0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130883526	130883526	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:130883526C>T	ENST00000338961.6	-	7	1776	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	PTGES2_ENST00000277462.5_Missense_Mutation_p.M153I	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	344	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CCAGCCCCTCCATCACACGCA	0.622000													4	13					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114442165	114442165	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:114442165C>T	ENST00000375478.3	-	6	1310	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	NXPE4_ENST00000424261.2_Missense_Mutation_p.G93E	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TTGCAATTTTCCAGATTCATG	0.378000													43	132					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238001	21238001	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:21238001G>A	ENST00000233242.1	-	23	3767	c.3640C>T	c.(3640-3642)Cac>Tac	p.H1214Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1214					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGACTCTGTGATCCAGGAGT	0.408000													39	87					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43543152	43543152	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:43543152C>T	ENST00000400427.1	+	16	3603	c.3207C>T	c.(3205-3207)ccC>ccT	p.P1069P	UMODL1_ENST00000400424.1_Silent_p.P941P|UMODL1_ENST00000408910.2_Silent_p.P1013P|UMODL1_ENST00000408989.2_Silent_p.P1141P|UMODL1_ENST00000400423.2_3'UTR	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1013	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATCCATCCCCGAGTCCTCGT	0.627000													23	72					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474497	140474497	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:140474497G>A	ENST00000194155.4	+	1	271	c.123G>A	c.(121-123)acG>acA	p.T41T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		41	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGGAAACGGAGAGTGGCT	0.507000													26	31					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75147141	75147141	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:75147141G>A	ENST00000395759.2	+	7	832		c.e7-1		MTHFD2L_ENST00000325278.6_Splice_Site	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like						folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TTTGTTTTCAGGTATTCCAAA	0.388000													38	94					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852346	97852346	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:97852346G>A	ENST00000354565.2	+	1	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCAAGCAGATGATCAAGATAT	0.433000													38	100					0	0	1	0	0
IL24	11009	broad.mit.edu	37	1	207072772	207072772	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:207072772G>A	ENST00000367093.3	+	3	429	c.155G>A	c.(154-156)gGc>gAc	p.G52D	IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Missense_Mutation_p.G51D|IL24_ENST00000391929.3_Missense_Mutation_p.G52D	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	51					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGGGCCCAGGGCCAAGAATTC	0.557000													34	89					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063434	9063434	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9063434G>A	ENST00000397910.4	-	3	24215	c.24012C>T	c.(24010-24012)ctC>ctT	p.L8004L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8006	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGACGTGAGGAGTGAAGTCA	0.463000													29	30					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885700	29885700	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:29885700C>T	ENST00000310624.6	+	4	2104	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	697	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCAAAGTCCCCTGAGAAGGC	0.567000													52	132					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751671	76751671	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:76751671G>A	ENST00000369950.3	-	2	429	c.240C>T	c.(238-240)gtC>gtT	p.V80V	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	80					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGTGGACAGACTTTAACCC	0.368000													22	68					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44006380	44006380	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:44006380G>A	ENST00000292140.5	-	3	629	c.269C>T	c.(268-270)tCg>tTg	p.S90L	PHLDB3_ENST00000599242.1_Missense_Mutation_p.S90L	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	90										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCCTTCCCGCGAAGAGGTGGA	0.662000													3	10					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852052	38852052	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:38852052C>T	ENST00000310803.5	-	2	367	c.190G>A	c.(190-192)Gat>Aat	p.D64N	RASGRP1_ENST00000559830.1_Missense_Mutation_p.D64N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.D16N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.D115N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.D64N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.D64N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	64	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCAATGAGATCGTCCAGGCTG	0.483000													16	37					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390888	197390888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:197390888C>T	ENST00000367397.1	+	2	931	c.73C>T	c.(73-75)Caa>Taa	p.Q25*	CRB1_ENST00000367399.2_Nonsense_Mutation_p.Q532*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.Q644*|CRB1_ENST00000543483.1_Silent_p.S273S|CRB1_ENST00000544212.1_Nonsense_Mutation_p.Q125*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.Q575*|CRB1_ENST00000367400.3_Nonsense_Mutation_p.Q644*			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	644					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGCTGTCTCCAAGACATTAA	0.438000													50	91					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207605808	207605808	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:207605808C>T	ENST00000374412.3	-	10	1704	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	MDH1B_ENST00000449792.1_Missense_Mutation_p.D379N|MDH1B_ENST00000454776.2_Missense_Mutation_p.D477N	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	477					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTTTCTTCATCAGGGACCAGA	0.343000													10	31					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78789516	78789516	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:78789516C>T	ENST00000258886.8	+	21	2793	c.2644C>T	c.(2644-2646)Cat>Tat	p.H882Y		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	882							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ACACAAAGATCATTTGATTGG	0.368000													39	63					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899666	128899666	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:128899666G>A	ENST00000435159.2	+	2	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	159						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CAGAGACTGGGATGACCACGG	0.582000													9	9					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032265	10032265	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:10032265G>A	ENST00000396573.2	-	4	867	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Silent_p.F186F|GRIN2A_ENST00000404927.2_Silent_p.F186F|GRIN2A_ENST00000330684.3_Silent_p.F186F|GRIN2A_ENST00000535259.1_Silent_p.F29F|GRIN2A_ENST00000396575.2_Silent_p.F186F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	186					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCTTGACGAAGCTGATGA	0.502000													30	104					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116418699	116418699	+	Silent	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:116418699T>C	ENST00000281928.3	-	23	5426	c.5220A>G	c.(5218-5220)caA>caG	p.Q1740Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1740					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTAGAAAACTTGCTCATCCT	0.408000													16	36					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68695337	68695337	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:68695337C>T	ENST00000423218.2	-	2	179	c.84G>A	c.(82-84)agG>agA	p.R28R	ITGA11_ENST00000315757.7_Silent_p.R28R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	28					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCCGGGGCTTCCTGGTGTCCA	0.622000													8	20					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753855	113753855	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:113753855C>T	ENST00000295878.3	-	6	881	c.735G>A	c.(733-735)gaG>gaA	p.E245E	KIAA1407_ENST00000545063.1_Silent_p.E76E	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	245										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTCCTCTTCCTCTTTCTTGG	0.473000													44	130					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666023	157666023	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:157666023C>T	ENST00000368184.3	-	7	1230	c.939G>A	c.(937-939)caG>caA	p.Q313Q	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.Q313Q|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	313	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCCCTGAACCCTGGGCTACTG	0.522000													46	96					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366061	64366061	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:64366061G>A	ENST00000377574.1	+	5	1651	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	SLC22A12_ENST00000473690.1_Missense_Mutation_p.V81M|SLC22A12_ENST00000336464.7_Missense_Mutation_p.V268M|SLC22A12_ENST00000377567.2_Missense_Mutation_p.V194M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.V194M	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	302					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						GCTGTGGAGGGTGGCTGCCAT	0.662000													6	20					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79804344	79804344	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:79804344G>A	ENST00000331483.4	-	7	1239	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	P4HB_ENST00000439918.2_Silent_p.I295I|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	339					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGAACTCTGTGATCCTCTCTG	0.642000													88	59					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3305562	3305562	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:3305562C>T	ENST00000252032.9	-	14	1309	c.1242G>A	c.(1240-1242)ttG>ttA	p.L414L	C20orf194_ENST00000453730.2_Silent_p.L152L	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	414										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAAACGGAATCAACTCAAAGG	0.373000													38	121					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3443716	3443716	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:3443716G>A	ENST00000520002.1	-	10	1722	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	CSMD1_ENST00000602723.1_Silent_p.T389T|CSMD1_ENST00000400186.3_Silent_p.T389T|CSMD1_ENST00000602557.1_Silent_p.T389T|CSMD1_ENST00000539096.1_Silent_p.T388T|CSMD1_ENST00000542608.1_Silent_p.T388T|CSMD1_ENST00000537824.1_Silent_p.T388T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	389	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCTCTGACAGGTGATGCTTT	0.468000													7	21					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776912	5776912	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:5776912G>A	ENST00000317254.3	+	1	990	c.942G>A	c.(940-942)aaG>aaA	p.K314K	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CAGGTTCTAAGGATACCAAAT	0.403000													24	40					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382074	3382074	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:3382074T>C	ENST00000589123.1	+	2	488	c.368T>C	c.(367-369)cTg>cCg	p.L123P	NFIC_ENST00000443272.2_Missense_Mutation_p.L132P|NFIC_ENST00000341919.3_Missense_Mutation_p.L132P|NFIC_ENST00000395111.3_Missense_Mutation_p.L123P|NFIC_ENST00000590282.1_Missense_Mutation_p.L132P|NFIC_ENST00000586919.1_Missense_Mutation_p.L123P|NFIC_ENST00000346156.5_Missense_Mutation_p.L123P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	132					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGGCTGGACCTGGTCATGGTC	0.672000													68	87					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158242658	158242658	+	Silent	SNP	G	G	A	rs34909207	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:158242658G>A	ENST00000296526.7	+	6	1114	c.789G>A	c.(787-789)gtG>gtA	p.V263V	GRIA2_ENST00000507898.1_Silent_p.V216V|GRIA2_ENST00000264426.9_Silent_p.V263V|GRIA2_ENST00000393815.2_Silent_p.V216V|GRIA2_ENST00000449365.1_Silent_p.V216V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	263					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTCAGATAGTGGACTATGATG	0.363000													42	99					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143902	55143902	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:55143902G>A	ENST00000491143.2	+	2	1494	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	488					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GTGGCAAGACGATCTGAGCAC	0.577000													16	58					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163591	163591	+	RNA	SNP	G	G	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:163591G>C	ENST00000606975.1	-	0	330																											AGTGACATGCGGATCTTCTTT	0.547000													14	47					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514594	75514594	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:75514594T>C	ENST00000355774.2	-	2	1980	c.1765A>G	c.(1765-1767)Aat>Gat	p.N589D	MLH3_ENST00000556257.1_Missense_Mutation_p.N589D|MLH3_ENST00000556740.1_Missense_Mutation_p.N589D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.N589D	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	589					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTCCACAATTGCTAGATTCT	0.363000								Mismatch excision repair (MMR)					32	64					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100358008	100358008	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:100358008C>T	ENST00000294724.4	+	24	3582	c.3104C>T	c.(3103-3105)aCc>aTc	p.T1035I	AGL_ENST00000370161.2_Missense_Mutation_p.T1019I|AGL_ENST00000370165.3_Missense_Mutation_p.T1035I|AGL_ENST00000370163.3_Missense_Mutation_p.T1035I|AGL_ENST00000361915.3_Missense_Mutation_p.T1035I|AGL_ENST00000361302.3_Missense_Mutation_p.T1019I|AGL_ENST00000361522.4_Missense_Mutation_p.T1018I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1035					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AATGGTTCAACCTTTGTGAAA	0.353000													28	44					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681156	44681156	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:44681156C>T	ENST00000590089.1	+	7	2108	c.1741C>T	c.(1741-1743)Cat>Tat	p.H581Y	ZNF226_ENST00000454662.2_Missense_Mutation_p.H581Y|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.H581Y			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CCAGCTGATCCATACGGGTGA	0.453000													42	172					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39546648	39546648	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:39546648C>T	ENST00000379631.4	-	4	657		c.e4+1		STOML3_ENST00000423210.1_Splice_Site	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3							integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATCAGTACTACCTCTTGTGGA	0.353000													30	88					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639116	3639116	+	Missense_Mutation	SNP	G	G	A	rs112694849		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3639116G>A	ENST00000294008.3	-	12	5163	c.4523C>T	c.(4522-4524)tCg>tTg	p.S1508L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1508	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCACAGAGCCGAATTCAGAAA	0.632000								Direct reversal of damage					79	200					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970886	151970886	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:151970886A>C	ENST00000355193.2	-	7	1134	c.916T>G	c.(916-918)Tat>Gat	p.Y306D	KMT2C_ENST00000262189.6_Missense_Mutation_p.Y306D					lysine (K)-specific methyltransferase 2C																		GGATAATGATACATCTGGGTA	0.433000													18	185					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3495020	3495020	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:3495020G>A	ENST00000340083.5	+	7	1372	c.1307G>A	c.(1306-1308)gGc>gAc	p.G436D	DOK7_ENST00000389653.2_Missense_Mutation_p.G436D|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	436					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GACTCAGGCGGCCAGACGTCC	0.716000													10	27					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262184	15262184	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:15262184C>T	ENST00000256953.2	-	5	796	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	RERG_ENST00000546331.1_Missense_Mutation_p.G135R|RERG_ENST00000536465.1_Missense_Mutation_p.G154R|RERG_ENST00000538313.1_Missense_Mutation_p.G154R	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	154					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTGATGTTCCCTTCTCCAGTG	0.542000													46	113					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532312	42532312	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:42532312C>T	ENST00000282030.5	+	4	3303	c.3007C>T	c.(3007-3009)Ccg>Tcg	p.P1003S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1003						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)		CCAGTATGACCCGTTGCTCTA	0.443000									Schinzel-Giedion syndrome				33	105					0	0	1	0	0
GLTP	51228	broad.mit.edu	37	12	110293508	110293508	+	Silent	SNP	G	G	A	rs148094807		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:110293508G>A	ENST00000318348.4	-	4	476	c.363C>T	c.(361-363)ccC>ccT	p.P121P	GLTP_ENST00000544393.1_Silent_p.P102P	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	121						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GGATGAGGTTGGGGTGGTTCT	0.607000													21	70					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915545	48915545	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:48915545C>T	ENST00000294954.7	-	11	1412	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.R437K|LHCGR_ENST00000401907.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.R402K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	464					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GGTGTGCCATCTTTCTAGAGT	0.463000													26	70					0	0	1	0	0
EMC7	56851	broad.mit.edu	37	15	34376625	34376625	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:34376625G>A	ENST00000256545.4	-	5	747	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		GTCTTGTCATGAACTCAGAAA	0.453000													36	97					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920686	51920686	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:51920686C>T	ENST00000353836.5	-	2	292	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R24Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R24Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R24Q|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R24Q|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R24Q|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R24Q|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R24Q|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R24Q	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	24	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTCCTGCACTCGTATCCAGAA	0.617000													81	96					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279341	2279341	+	Splice_Site	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:2279341A>G	ENST00000440306.2	-	2	45	c.8_splice	c.e2-1	p.Y4_splice	FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000242257.8_Splice_Site_p.Y4_splice			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	4					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		AGCTTCAAGTACCTGGTGGGA	0.562000													83	107					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													5	122					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245401	59245401	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:59245401C>T	ENST00000530162.1	+	1	556	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTCCCACTCCCTTTCTGCGG	0.498000													43	107					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608561	177608561	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:177608561C>T	ENST00000280193.2	-	6	1340	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	309	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.E309*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGTCTAGTTCTTTGTGGGGT	0.507000													51	114					0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50705198	50705198	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:50705198G>A	ENST00000449719.2	-	6	787	c.451C>T	c.(451-453)Cct>Tct	p.P151S	MAPK11_ENST00000330651.6_Intron			Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	0	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGCCAGAGGAGGCCAGCAC	0.607000													5	7					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38792312	38792312	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:38792312C>T	ENST00000310803.5	-	14	1889	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	RASGRP1_ENST00000559830.1_Missense_Mutation_p.R536Q|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R523Q|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R622Q|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R536Q|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R536Q	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	571					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ACCTTTACATCGATATCCTTG	0.423000													53	116					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48356756	48356756	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:48356756C>T	ENST00000435803.1	+	27	9886	c.9862C>T	c.(9862-9864)Ccg>Tcg	p.P3288S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3288					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAACAGCACCGTTTTGCTT	0.363000													6	21					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603347	13603347	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:13603347G>A	ENST00000040738.5	-	10	5312	c.5177C>T	c.(5176-5178)aCt>aTt	p.T1726I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1726							DNA binding										ACATGTCACAGTGCCCTCTGT	0.502000													43	109					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210833	30210833	+	RNA	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:30210833G>A	ENST00000518096.1	+	0	1445																											GAGGATTTCGGTGAGGAGGCC	0.567000													12	34					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172908	51172908	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:51172908C>T	ENST00000440970.1	-	2	3365	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.V1075V|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1075					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCGGGAATCACCGCTGAGT	0.527000													16	54					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316257	151316257	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151316257G>A	ENST00000290524.4	-	9	835	c.657C>T	c.(655-657)tcC>tcT	p.S219S	RFX5_ENST00000452671.2_Silent_p.S219S|RFX5_ENST00000368870.2_Silent_p.S219S|RFX5_ENST00000452513.2_Silent_p.S179S	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	219						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAACTGAAGGACCGTTTCA	0.592000													26	76					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185234931	185234931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:185234931C>T	ENST00000296252.4	-	7	1047	c.906G>A	c.(904-906)tgG>tgA	p.W302*	LIPH_ENST00000424591.2_Nonsense_Mutation_p.W268*	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	302					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GATGGTCTTTCCAATTATCAG	0.383000													37	102					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384743	108384743	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:108384743C>T	ENST00000265843.4	-	6	1601	c.1491G>A	c.(1489-1491)agG>agA	p.R497R	EXPH5_ENST00000428840.1_Silent_p.R421R|EXPH5_ENST00000443411.1_Silent_p.R309R|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Silent_p.R490R	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	497					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGAATGATTTCCTGCTTCGAT	0.428000													26	48					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584627	30584627	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:30584627C>T	ENST00000217299.3	+	3	1281	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	369						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCTACATCTTCTGCTGGT	0.592000													14	38					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43219767	43219767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:43219767G>A	ENST00000255226.6	+	7	1716	c.900G>A	c.(898-900)tgG>tgA	p.W300*	SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.W300*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	300						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.W300C(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAATCCCTGGACAGGCGGCG	0.547000													31	104					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42720522	42720522	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:42720522G>A	ENST00000398652.3	+	8	672	c.606G>A	c.(604-606)ctG>ctA	p.L202L	FAM3B_ENST00000398647.3_Silent_p.L115L|FAM3B_ENST00000357985.2_Silent_p.L163L|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.L186L			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	163					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCTGCAGACTGAATAACGATG	0.468000													22	59					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56223308	56223308	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:56223308A>C	ENST00000332836.2	-	8	2728	c.2701T>G	c.(2701-2703)Tgc>Ggc	p.C901G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	901						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGTCGCAGCAGGCACGGGTG	0.562000													34	43					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620304	7620304	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:7620304G>A	ENST00000486284.1	+	8	1985	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	GRM7_ENST00000403881.1_Missense_Mutation_p.E571K|GRM7_ENST00000357716.4_Missense_Mutation_p.E571K|GRM7_ENST00000389336.4_Missense_Mutation_p.E571K|GRM7_ENST00000402647.2_Missense_Mutation_p.E571K|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	571					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAGGCCCAATGAAAATCGAAC	0.522000													47	111					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174597	140174597	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:140174597C>T	ENST00000526136.1	+	1	48	c.48C>T	c.(46-48)ctC>ctT	p.L16L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L16L|PCDHA2_ENST00000378132.1_Silent_p.L16L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCTGCTCTCGCTTCTGC	0.582000													30	35					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753449	160753449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:160753449G>A	ENST00000274547.2	-	10	1334	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.R373*|GABRB2_ENST00000517901.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	373					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	cacaaggatcgatattgggtc	0.383000													22	23					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57771051	57771051	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:57771051A>G	ENST00000371030.2	+	2	3866	c.3866A>G	c.(3865-3867)aAc>aGc	p.N1289S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1289						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGAAGATCAACCCTAAAAGG	0.488000													50	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179589021	179589021	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179589021C>T	ENST00000589042.1	-	72	21305	c.21081G>A	c.(21079-21081)ggG>ggA	p.G7027G	TTN_ENST00000342992.6_Silent_p.G5783G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.G6710G|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6710	Ig-like 52.						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)			AGCTGCTTTTCCCAACATTAT	0.383000													10	28					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515089	28515089	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:28515089T>C	ENST00000356897.1	-	3	252	c.230A>G	c.(229-231)aAc>aGc	p.N77S		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	77					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GAGGTACAGGTTCACTCCTGG	0.647000													18	39					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31137252	31137252	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:31137252G>A	ENST00000332585.6	+	2	853	c.749G>A	c.(748-750)aGg>aAg	p.R250K	OSBP2_ENST00000407373.1_Missense_Mutation_p.R77K|OSBP2_ENST00000403222.3_Missense_Mutation_p.R85K|OSBP2_ENST00000446658.2_Missense_Mutation_p.R250K|OSBP2_ENST00000382310.3_Missense_Mutation_p.R250K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	250	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGTGGGGCCAGGAGCTACCAC	0.612000													20	47					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3990599	3990599	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:3990599C>T	ENST00000404826.2	+	6	1031	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	SDK1_ENST00000389531.3_Missense_Mutation_p.P298S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	298	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTGTGGTTCCCCCGGGCAA	0.547000													40	64					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85345586	85345586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:85345586C>T	ENST00000299927.3	+	8	3788	c.3766C>T	c.(3766-3768)Cag>Tag	p.Q1256*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.Q1256*			Q92610	ZN592_HUMAN	zinc finger protein 592	1256					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGGCCTCTCAGGACCAGGA	0.622000													19	39					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693092	69693092	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:69693092G>A	ENST00000265403.7	+	5	1160	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G294D	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	378					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGAGCCAATGGCATCTATGAG	0.403000													45	111					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865003	10865003	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:10865003C>T	ENST00000254488.2	+	4	615	c.549C>T	c.(547-549)ttC>ttT	p.F183F	SLC6A11_ENST00000454147.1_Silent_p.F183F	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	183					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GTGTGGAGTTCCAGAAACTGA	0.433000													14	42					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067869	3067869	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:3067869G>A	ENST00000397461.1	+	14	1954	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CNTN4_ENST00000418658.1_Missense_Mutation_p.D524N|CNTN4_ENST00000427331.1_Missense_Mutation_p.D524N|CNTN4_ENST00000397459.2_Missense_Mutation_p.D196N|CNTN4_ENST00000358480.3_Missense_Mutation_p.D305N|CNTN4_ENST00000448906.2_Missense_Mutation_p.D196N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	524	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTAACGCATGATCACTCGCT	0.443000													9	52					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179671	33179671	+	Silent	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:33179671G>A	ENST00000374656.4	+	6	1219	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	337	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GGGAGGGTGGGGGTGCCGGAG	0.682000													9	14					0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84867744	84867744	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:84867744G>A	ENST00000370665.3	+	2	319	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	96					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ACAGCTATATGAAGCATATGC	0.368000													22	18					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282568	59282568	+	Silent	SNP	C	C	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:59282568C>T	ENST00000329328.3	+	1	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATGTACTTCCTGCTCCGCA	0.433000													69	199					0	0	1	0	0
CNRIP1	25927	broad.mit.edu	37	2	68546460	68546460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:68546460delA	ENST00000263655.3	-	1	678	c.73delT	c.(73-75)acfs	p.Y25fs	CNRIP1_ENST00000409559.3_Frame_Shift_Del_p.Y25fs|CNRIP1_ENST00000481714.1_Intron|CNRIP1_ENST00000409862.1_Frame_Shift_Del_p.Y25fs	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	25							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCCACCTTGTAAAAGACCGGG	0.647													2	4	---	---	---	---					
IHH	3549	broad.mit.edu	37	2	219920037	219920037	+	Frame_Shift_Del	DEL	A	A	-	rs394452	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:219920037delA	ENST00000295731.5	-	3	1127	c.1128delT	c.(1126-1128)acfs	p.T376fs		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	376					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCCCCCGGAGTCCAGCTGC	0.657													17	39	---	---	---	---					
SPINK5	11005	broad.mit.edu	37	5	147474015	147474028	+	Frame_Shift_Del	DEL	CAACAAATGTGCCC	CAACAAATGTGCCC	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:147474015_147474028delCAACAAATGTGCCC	ENST00000359874.3	+	9	838_851	c.765_778delCAACAAATGTGCCC	c.(763-780)ggtgfs	p.GNKCAL255fs	SPINK5_ENST00000256084.7_Frame_Shift_Del_p.GNKCAL255fs|SPINK5_ENST00000398454.1_Frame_Shift_Del_p.GNKCAL255fs|SPINK5_ENST00000476608.1_3'UTR	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	255	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCATGGCAACAAATGTGCCCTGTGTGCTGA	0.416													28	84	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31599519	31599519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31599519delC	ENST00000376033.2	+	16	3303	c.3069delC	c.(3067-3069)tgfs	p.C1023fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.C1023fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1023	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTACCTCTTGCCGGGGTCGGG	0.627													11	30	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													5	7	---	---	---	---					
SGK1	6446	broad.mit.edu	37	6	134493445	134493445	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:134493445delT	ENST00000367858.5	-	10	1554	c.957delA	c.(955-957)aafs	p.K319fs	SGK1_ENST00000475719.2_Frame_Shift_Del_p.K180fs|SGK1_ENST00000367857.5_Frame_Shift_Del_p.K214fs|SGK1_ENST00000237305.7_Frame_Shift_Del_p.K224fs|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Frame_Shift_Del_p.K252fs|SGK1_ENST00000413996.3_Frame_Shift_Del_p.K238fs	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	224	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TATTCTCTGGTTTTAAGTCTC	0.363													18	79	---	---	---	---					
GLCCI1	113263	broad.mit.edu	37	7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)del	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.									endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562													7	587	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													7	99	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													4	3	---	---	---	---					
LINC00933	100506874	broad.mit.edu	37	15	85115423	85115423	+	RNA	DEL	T	T	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:85115423delT	ENST00000557887.1	+	0	1					NR_038273.1|NR_038274.1																						CATAATGCTCttttttttttt	0.393													5	9	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													6	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	5	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													7	347	---	---	---	---