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
AMPH	273	broad.mit.edu	37	7	38500927	38500927	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:38500927C>T	ENST00000356264.2	-	11	1188	c.973G>A	c.(973-975)Gag>Aag	p.E325K	AMPH_ENST00000325590.5_Missense_Mutation_p.E325K|AMPH_ENST00000428293.2_Missense_Mutation_p.E325K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	325					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGTTGTCCTCAAAGAAACTG	0.488000													54	79					0	0	0.870114	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603170	47603170	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:47603170G>T	ENST00000371891.3	+	1	44	c.13G>T	c.(13-15)Gtc>Ttc	p.V5F	CYP4A22_ENST00000371890.3_Missense_Mutation_p.V5F|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.V5F|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	5						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGTGTCTCTGTCCTGAGCCC	0.587000													43	75					3.10996e-30	4.53166e-30	0.870114	1	0
MUC7	4589	broad.mit.edu	37	4	71347069	71347069	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:71347069C>T	ENST00000413702.1	+	4	896	c.608C>T	c.(607-609)cCa>cTa	p.P203L	MUC7_ENST00000456088.1_Missense_Mutation_p.P203L|MUC7_ENST00000304887.5_Missense_Mutation_p.P203L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	203	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAAGCTCCACCATCTTCCTCA	0.587000													4	129					0	0	0.150653	0	0
TOPBP1	11073	broad.mit.edu	37	3	133341937	133341937	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:133341937C>G	ENST00000260810.5	-	19	3307	c.3176G>C	c.(3175-3177)gGa>gCa	p.G1059A		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1059					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						tattttaCCTCCTTTAGAGTC	0.338000								Other conserved DNA damage response genes					8	0					0	0	0.361761	0	0
OR4C15	81309	broad.mit.edu	37	11	55322491	55322491	+	Silent	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:55322491T>C	ENST00000314644.2	+	1	709	c.709T>C	c.(709-711)Tta>Cta	p.L237L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTGTACCCGTTACTGGAGCT	0.448000										HNSCC(20;0.049)			14	11					0	0	0.457914	0	0
PCNT	5116	broad.mit.edu	37	21	47769714	47769714	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr21:47769714G>A	ENST00000359568.5	+	8	1431	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	442	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAAAGAGAGCGAGAAAGAAAA	0.433000													21	35					0	0	0.717897	0	0
CCND3	896	broad.mit.edu	37	6	41908692	41908692	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:41908692G>A	ENST00000372987.4	-	1	565	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372991.4_Intron|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000511642.1_Intron			P30281	CCND3_HUMAN	cyclin D3	241					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCACACACCCGAGGGGAAGGG	0.677000			T	IGH@	MM								63	76					0	0	0.870114	0	0
PCDH20	64881	broad.mit.edu	37	13	61986716	61986716	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:61986716C>A	ENST00000409186.1	-	5	3621	c.1516G>T	c.(1516-1518)Gct>Tct	p.A506S	PCDH20_ENST00000409204.4_Missense_Mutation_p.A506S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	479	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCCACCACAGCTACTTCATAG	0.388000													63	78					9.61239e-26	1.36176e-25	0.870114	1	0
EME1	146956	broad.mit.edu	37	17	48452831	48452831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:48452831G>T	ENST00000393271.2	+	2	344	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	EME1_ENST00000338165.4_Nonsense_Mutation_p.E88*|EME1_ENST00000511648.2_Nonsense_Mutation_p.E88*	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	88					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGTGAAAGTGAAGATGAAGA	0.463000								Direct reversal of damage;Homologous recombination					37	53					8.86878e-18	1.13077e-17	0.870114	1	0
KAT6B	23522	broad.mit.edu	37	10	76603021	76603021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:76603021C>G	ENST00000287239.4	+	3	895	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	KAT6B_ENST00000372725.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372711.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372724.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372714.1_Missense_Mutation_p.Q136E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	136	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCTCAGAAGTCAAAGTGATCT	0.498000													29	22					0	0	0.706142	0	0
TGFBR2	7048	broad.mit.edu	37	3	30715617	30715617	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:30715617G>T	ENST00000295754.5	+	5	1657	c.1275G>T	c.(1273-1275)atG>atT	p.M425I	TGFBR2_ENST00000359013.4_Missense_Mutation_p.M450I	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	425	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGATACATGGCTCCAGAAG	0.453000													26	6					6.53348e-20	8.54378e-20	0.788014	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73459948	73459948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:73459948G>A	ENST00000556143.1	-	4	1826	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T369M|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T369M	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	369						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGAAAAGTCCGTGGGAGGGTT	0.562000													47	50					0	0	0.870114	0	0
C2orf42	54980	broad.mit.edu	37	2	70392226	70392226	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:70392226C>T	ENST00000264434.2	-	8	1730	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	C2orf42_ENST00000420306.1_Missense_Mutation_p.E451K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	451										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACTCTCACCTCTGGGGTATCT	0.428000													44	55					0	0	0.870114	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855364	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53855364C>T	ENST00000458035.1	+	4	1553	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	ZNF845_ENST00000595091.1_Missense_Mutation_p.T479I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTT	0.378000													4	94					0	0	0.217242	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	127					0	0	0.217242	0	0
NPC1	4864	broad.mit.edu	37	18	21119389	21119389	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr18:21119389G>A	ENST00000269228.5	-	19	3395	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	NPC1_ENST00000412552.2_Silent_p.F629F	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	947					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCACCCAGTCGAAATAATCGT	0.502000													21	31					0	0	0.706142	0	0
HTR1D	3352	broad.mit.edu	37	1	23519904	23519904	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:23519904G>A	ENST00000374619.1	-	1	1318	c.809C>T	c.(808-810)tCc>tTc	p.S270F	HTR1D_ENST00000314113.3_Missense_Mutation_p.S270F	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	270					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAAGAGAGGGGAGCCAGCCGA	0.572000													34	46					0	0	0.804634	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228730	118228730	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:118228730C>A	ENST00000369230.3	+	9	1107	c.961C>A	c.(961-963)Cca>Aca	p.P321T		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	321					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGAAGGTTGCCCAACAATGGG	0.358000													18	19					1.22574e-08	1.38917e-08	0.624587	1	0
F5	2153	broad.mit.edu	37	1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:169510463A>G	ENST00000367796.3	-	13	4081	c.3880T>C	c.(3880-3882)Ttc>Ctc	p.F1294L	F5_ENST00000367797.3_Missense_Mutation_p.F1289L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				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)	GTCTGGCTGAAGTCTAGAGAA	0.517000													5	363					0	0	0.457914	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206397	104206397	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:104206397C>A	ENST00000202556.9	-	12	2638	c.2356G>T	c.(2356-2358)Gcc>Tcc	p.A786S	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A205S	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	786	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GATGACGGGGCAGGCTCAGCG	0.602000													44	83					1.4709e-25	2.06466e-25	0.870114	1	0
TFCP2L1	29842	broad.mit.edu	37	2	122038802	122038802	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:122038802C>A	ENST00000263707.5	-	2	205	c.108G>T	c.(106-108)ctG>ctT	p.L36L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	36	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCTCGGGGGACAGCTGGGGTT	0.622000													63	115					6.20995e-33	9.1358e-33	0.870114	1	0
CCDC157	550631	broad.mit.edu	37	22	30772567	30772567	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:30772567T>C	ENST00000405659.1	+	12	2801	c.2092T>C	c.(2092-2094)Tct>Cct	p.S698P	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	698										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACATCCCCATCTCGGCAGCC	0.667000													7	281					0	0	0.387290	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652020	36652020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:36652020C>T	ENST00000405375.1	+	2	377	c.142C>T	c.(142-144)Cga>Tga	p.R48*	CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.R48*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.R82*|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.R48*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	48					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGCCCGTGAGCGATGGAACTT	0.662000													29	58					0	0	0.760397	0	0
KCNC4	3749	broad.mit.edu	37	1	110754241	110754241	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:110754241C>T	ENST00000369787.3	+	1	147	c.120C>T	c.(118-120)atC>atT	p.I40I	KCNC4_ENST00000438661.2_Silent_p.I40I|KCNC4_ENST00000413138.3_Silent_p.I40I	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	40					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGATCATCATCAACGTGGGCG	0.677000													20	35					0	0	0.681144	0	0
NLRP11	204801	broad.mit.edu	37	19	56297208	56297208	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:56297208G>T	ENST00000443188.1	-	12	3595	c.2885C>A	c.(2884-2886)aCc>aAc	p.T962N	NLRP11_ENST00000592953.1_Missense_Mutation_p.T863N|NLRP11_ENST00000589824.2_Missense_Mutation_p.T908N|NLRP11_ENST00000360133.3_Missense_Mutation_p.T908N|NLRP11_ENST00000589093.1_Missense_Mutation_p.T962N	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	962							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAACTGCTGGGTTTGTGTGTT	0.433000													18	28					0.00074312	0.00078412	0.539581	1	0
NBPF3	84224	broad.mit.edu	37	1	21798095	21798095	+	Silent	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:21798095A>G	ENST00000318220.6	+	8	1360	c.312A>G	c.(310-312)cgA>cgG	p.R104R	NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000318249.5_Silent_p.R160R|NBPF3_ENST00000454000.2_Silent_p.R90R			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	160						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGGAACGAGAGCTGACCC	0.473000													6	281					0	0	0.361761	0	0
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413000													5	167					0	0	0.278610	0	0
ZNF845	91664	broad.mit.edu	37	19	53855365	53855365	+	Silent	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53855365A>G	ENST00000458035.1	+	4	1554	c.1437A>G	c.(1435-1437)acA>acG	p.T479T	ZNF845_ENST00000595091.1_Silent_p.T479T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGACATCATCCCTTG	0.378000													4	95					0	0	0.278610	0	0
SBF2	81846	broad.mit.edu	37	11	9812207	9812207	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:9812207C>G	ENST00000256190.8	-	34	4731	c.4594G>C	c.(4594-4596)Gaa>Caa	p.E1532Q	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1532	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCATGCTTTTCTCCTTTATCA	0.308000													33	54					0	0	0.853193	0	0
TPTE2	93492	broad.mit.edu	37	13	20012235	20012235	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:20012235G>T	ENST00000400230.2	-	14	1076	c.1032C>A	c.(1030-1032)gcC>gcA	p.A344A	TPTE2_ENST00000382975.4_Silent_p.A304A|TPTE2_ENST00000255310.6_Silent_p.A267A|TPTE2_ENST00000382978.1_Silent_p.A304A|TPTE2_ENST00000400103.2_Silent_p.A233A|TPTE2_ENST00000382977.4_Silent_p.A344A|TPTE2_ENST00000390680.2_Silent_p.A267A|TPTE2_ENST00000457266.2_Silent_p.A233A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	344	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCATACCTCGGCAGTTAAAA	0.373000													3	95					8.12818e-05	8.6362e-05	0.248553	1	0
USP32	84669	broad.mit.edu	37	17	58268030	58268030	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:58268030C>A	ENST00000300896.4	-	29	3730	c.3536G>T	c.(3535-3537)tGt>tTt	p.C1179F	USP32_ENST00000592339.1_Missense_Mutation_p.C849F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1179					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCAATTTTACAGCCTCTGCA	0.393000													39	55					2.77807e-22	3.76146e-22	0.864702	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517011	158517011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:158517011G>T	ENST00000302617.3	-	1	884	c.885C>A	c.(883-885)taC>taA	p.Y295*		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCTCAGACAGTAAATGATGG	0.458000													40	67					1.81118e-26	2.58982e-26	0.870114	1	0
SDK2	54549	broad.mit.edu	37	17	71390398	71390398	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:71390398A>G	ENST00000392650.3	-	26	3658	c.3658T>C	c.(3658-3660)Tgg>Cgg	p.W1220R	SDK2_ENST00000388726.3_Missense_Mutation_p.W1220R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1220	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTCGCTCCAGCGCACCAGC	0.652000													16	16					0	0	0.608945	0	0
LHX5	64211	broad.mit.edu	37	12	113906970	113906970	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:113906970G>T	ENST00000261731.3	-	2	927	c.354C>A	c.(352-354)gaC>gaA	p.D118E		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	118	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						AGCTCAGGTAGTCGTCTTTGC	0.572000													11	13					3.86212e-05	4.1613e-05	0.361761	1	0
GPRIN2	9721	broad.mit.edu	37	10	46999113	46999113	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:46999113C>T	ENST00000374314.4	+	1	1188	c.233C>T	c.(232-234)tCt>tTt	p.S78F	GPRIN2_ENST00000374317.1_Missense_Mutation_p.S78F			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	78										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCACGGGCCTCTGGCCCCAAG	0.701000													7	48					0	0	0.361761	0	0
EZH2	2146	broad.mit.edu	37	7	148511213	148511213	+	Silent	SNP	C	C	A	rs144723981		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:148511213C>A	ENST00000320356.2	-	15	1810	c.1689G>T	c.(1687-1689)ccG>ccT	p.P563P	EZH2_ENST00000350995.2_Silent_p.P519P|EZH2_ENST00000478654.1_Silent_p.P507P|EZH2_ENST00000460911.1_Silent_p.P558P|EZH2_ENST00000483967.1_Silent_p.P549P|EZH2_ENST00000476773.1_Silent_p.P507P|EZH2_ENST00000541220.1_Silent_p.P507P	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	558	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.P519P(2)|p.P563P(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGCGGCATCCCGGAAAGCGGT	0.547000			Mis		DLBCL								65	103					2.43516e-34	3.61728e-34	0.870114	1	0
RP1	6101	broad.mit.edu	37	8	55542115	55542115	+	Missense_Mutation	SNP	G	G	T	rs139088785	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:55542115G>T	ENST00000220676.1	+	4	5821	c.5673G>T	c.(5671-5673)ttG>ttT	p.L1891F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1891					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCAACCATTGCCTGGCAGTA	0.388000													30	50					3.90053e-15	4.77425e-15	0.760397	1	0
DNAH9	1770	broad.mit.edu	37	17	11584169	11584169	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:11584169C>A	ENST00000262442.4	+	19	3774	c.3706C>A	c.(3706-3708)Caa>Aaa	p.Q1236K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1236K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAACAGCAGCAATTCTGGGA	0.527000													10	17					0.000978159	0.00102506	0.387290	1	0
CCT6P3	643180	broad.mit.edu	37	7	64530765	64530765	+	RNA	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:64530765C>G	ENST00000426828.1	+	0	997					NR_033416.1																						AACCCTCGTTCTATCACATTA	0.398000													3	4					0	0	0.150653	0	0
VPS39	23339	broad.mit.edu	37	15	42454656	42454656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:42454656C>T	ENST00000318006.5	-	22	2361	c.2199G>A	c.(2197-2199)atG>atA	p.M733I	VPS39_ENST00000348544.4_Missense_Mutation_p.M744I	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	744					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCGACAGGTACATCCGAAGCA	0.592000													12	44					0	0	0.435327	0	0
NTRK2	4915	broad.mit.edu	37	9	87366903	87366903	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:87366903C>A	ENST00000304053.6	+	12	1782	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V	NTRK2_ENST00000376208.1_Silent_p.V433V|NTRK2_ENST00000359847.3_Silent_p.V433V|NTRK2_ENST00000376214.1_Silent_p.V433V|NTRK2_ENST00000277120.3_Silent_p.V433V|NTRK2_ENST00000395882.1_Silent_p.V433V|NTRK2_ENST00000395866.2_Silent_p.V277V|NTRK2_ENST00000376213.1_Silent_p.V433V|NTRK2_ENST00000323115.4_Silent_p.V433V	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	433					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TTCTCTAGGTCTATGCTGTGG	0.423000										TSP Lung(25;0.17)			29	35					8.73648e-17	1.1047e-16	0.796494	1	0
C3orf67	200844	broad.mit.edu	37	3	58849547	58849547	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:58849547C>T	ENST00000472469.1	-	11	1514	c.676G>A	c.(676-678)Ggt>Agt	p.G226S	RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.G319S|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.G319S|RP11-147N17.1_ENST00000493123.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	319										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GAGTCATCACCCAGAAGTAGA	0.463000													39	3					0	0	0.834066	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	44					0	0	0.729181	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730066	53730066	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:53730066T>A	ENST00000262135.4	-	3	320	c.227A>T	c.(226-228)aAa>aTa	p.K76I	RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.K76I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	76					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCATAACCTTTTAATTTTATC	0.353000													31	47					0	0	0.804634	0	0
OR4A5	81318	broad.mit.edu	37	11	51411647	51411647	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:51411647G>T	ENST00000319760.6	-	1	801	c.749C>A	c.(748-750)cCc>cAc	p.P250H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P250Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAAAATACAGGGTACAAAAAA	0.398000													19	31					8.04996e-18	1.03499e-17	0.608945	1	0
KIFAP3	22920	broad.mit.edu	37	1	169951164	169951164	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:169951164C>A	ENST00000367765.1	-	15	3128	c.1627G>T	c.(1627-1629)Gca>Tca	p.A543S	KIFAP3_ENST00000361580.2_Missense_Mutation_p.A583S|KIFAP3_ENST00000540905.1_Missense_Mutation_p.A285S|KIFAP3_ENST00000538366.1_Missense_Mutation_p.A505S|KIFAP3_ENST00000367767.1_Missense_Mutation_p.A539S	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	583					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTAGCAATGCAGCACAAGAG	0.348000													23	31					2.4375e-19	3.16048e-19	0.717897	1	0
PRDM14	63978	broad.mit.edu	37	8	70970924	70970924	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:70970924C>T	ENST00000276594.2	-	6	1538	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GATCCGAAGCCGGTCCCGCTT	0.507000													29	42					0	0	0.779181	0	0
NUP98	4928	broad.mit.edu	37	11	3744407	3744407	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:3744407G>C	ENST00000324932.7	-	16	2546	c.2126C>G	c.(2125-2127)tCt>tGt	p.S709C	NUP98_ENST00000355260.3_Missense_Mutation_p.S709C|NUP98_ENST00000359171.4_Missense_Mutation_p.S709C|NUP98_ENST00000397007.4_Missense_Mutation_p.S726C|NUP98_ENST00000397004.4_Missense_Mutation_p.S709C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	726					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CATATGGTAAGAATTATTTTC	0.423000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								32	50					0	0	0.804634	0	0
MISP	126353	broad.mit.edu	37	19	758421	758421	+	Missense_Mutation	SNP	C	C	T	rs112598403		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:758421C>T	ENST00000215582.6	+	2	1578	c.1475C>T	c.(1474-1476)cCg>cTg	p.P492L		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CGGGGATGCCCGCAAGCCAAC	0.632000													25	4					0	0	0.769981	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													5	69					0.0293803	0.0301691	0.248553	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													3	12					0	0	0.150653	0	0
MPDZ	8777	broad.mit.edu	37	9	13121876	13121876	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:13121876C>G	ENST00000319217.7	-	38	5340	c.5093G>C	c.(5092-5094)aGa>aCa	p.R1698T	MPDZ_ENST00000538841.1_Missense_Mutation_p.R557T|MPDZ_ENST00000546205.1_Missense_Mutation_p.R1712T|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1665T|MPDZ_ENST00000447879.1_Missense_Mutation_p.R1665T|MPDZ_ENST00000541718.1_Missense_Mutation_p.R1698T|MPDZ_ENST00000381022.2_Missense_Mutation_p.R1698T|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381015.4_Missense_Mutation_p.R1698T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1698	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGCGTCTGTCTCAGGACATT	0.473000													11	2					0	0	0.387290	0	0
CHRM3	1131	broad.mit.edu	37	1	240071577	240071577	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:240071577G>A	ENST00000255380.4	+	5	1605	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	276					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GACAGAGGCAGAGACAGAAAA	0.488000													17	26					0	0	0.575678	0	0
AFF2	2334	broad.mit.edu	37	X	148055007	148055007	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrX:148055007A>C	ENST00000370460.2	+	16	3753	c.3274A>C	c.(3274-3276)Aaa>Caa	p.K1092Q	AFF2_ENST00000286437.5_Missense_Mutation_p.K733Q|AFF2_ENST00000370457.5_Missense_Mutation_p.K1057Q|AFF2_ENST00000342251.3_Missense_Mutation_p.K1059Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1092					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTTCGAGAAATTTGGCAA	0.463000													76	6					0	0	0.870114	0	0
PTCH1	5727	broad.mit.edu	37	9	98209683	98209683	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:98209683C>A	ENST00000430669.2	-	23	4242	c.3657G>T	c.(3655-3657)caG>caT	p.Q1219H	PTCH1_ENST00000331920.6_Missense_Mutation_p.Q1285H|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q1284H|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q1219H|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q1134H|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q1134H|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q1134H			Q13635	PTC1_HUMAN	patched 1	1285					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGGTGGGGCTGCTGTCTCG	0.677000													76	85					1.49228e-48	2.32979e-48	0.870114	1	0
SCN1A	6323	broad.mit.edu	37	2	166848518	166848518	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:166848518C>A	ENST00000423058.2	-	26	5284	c.5267G>T	c.(5266-5268)tGt>tTt	p.C1756F	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.C1745F|SCN1A_ENST00000409050.1_Missense_Mutation_p.C1728F|SCN1A_ENST00000303395.4_Missense_Mutation_p.C1756F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1756			C -> G (in SMEI; dbSNP:rs121918809).			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)	TGGGTTCCCACAGTCTCCCTT	0.468000													60	105					1.07363e-35	1.61044e-35	0.870114	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227198689	227198689	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:227198689G>T	ENST00000334218.5	-	34	5770	c.4828C>A	c.(4828-4830)Cac>Aac	p.H1610N	CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366766.2_Intron			Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1615					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACAGTCATGTGATAGATGTGT	0.428000													6	8					8.12818e-05	8.6362e-05	0.248553	1	0
GRIK5	2901	broad.mit.edu	37	19	42526200	42526200	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:42526200C>A	ENST00000262895.3	-	13	1595	c.1596G>T	c.(1594-1596)aaG>aaT	p.K532N	GRIK5_ENST00000593562.1_Missense_Mutation_p.K532N|GRIK5_ENST00000301218.4_Missense_Mutation_p.K532N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	532						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGTAGCCAGGCTTGCGGCCCT	0.652000													13	18					6.31663e-08	7.05433e-08	0.479597	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296626	39296626	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:39296626G>A	ENST00000345847.4	-	1	113	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	38	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CACAGCAGCTGGGGCGGCAGC	0.667000													5	156					0	0	0.184627	0	0
DMXL2	23312	broad.mit.edu	37	15	51741202	51741202	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:51741202G>T	ENST00000251076.5	-	43	9377	c.9090C>A	c.(9088-9090)aaC>aaA	p.N3030K	DMXL2_ENST00000543779.2_Missense_Mutation_p.N3031K|DMXL2_ENST00000449909.3_Missense_Mutation_p.N2394K|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	3030						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAAGAATTCTGTTAGGGATGT	0.408000													8	22					2.74318e-10	3.15569e-10	0.335167	1	0
SPAG17	200162	broad.mit.edu	37	1	118537064	118537064	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:118537064G>T	ENST00000336338.5	-	35	5208	c.5143C>A	c.(5143-5145)Cgg>Agg	p.R1715R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1715						cilium|flagellar axoneme|microtubule		p.R1715W(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACCTTGACCGGAGATTAGGA	0.428000													27	49					6.70999e-13	7.95835e-13	0.796494	1	0
CMYA5	202333	broad.mit.edu	37	5	79027444	79027444	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:79027444G>T	ENST00000446378.2	+	2	2887	c.2856G>T	c.(2854-2856)gtG>gtT	p.V952V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	952						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGCATTTGTGTCAGAATTCT	0.393000													20	2					1.64293e-13	1.97928e-13	0.654019	1	0
ZNF761	388561	broad.mit.edu	37	19	53958910	53958910	+	RNA	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53958910A>G	ENST00000454407.1	+	0	1602							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K329K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCCTACAAATGTAATGAGT	0.413000													5	227					0	0	0.335167	0	0
DCLK2	166614	broad.mit.edu	37	4	151023702	151023702	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:151023702G>T	ENST00000296550.7	+	2	1248	c.494G>T	c.(493-495)tGg>tTg	p.W165L	DCLK2_ENST00000506325.1_Missense_Mutation_p.W165L|DCLK2_ENST00000302176.8_Missense_Mutation_p.W165L	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	165					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AATCCAAACTGGTCTGTGAAC	0.393000													29	4					2.19489e-29	3.16809e-29	0.819951	1	0
HRG	3273	broad.mit.edu	37	3	186389456	186389456	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:186389456G>T	ENST00000232003.4	+	4	516	c.436G>T	c.(436-438)Gat>Tat	p.D146Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	146	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GGTCCTCATAGATTTCTTTGA	0.453000													28	26					1.06801e-11	1.24737e-11	0.740014	1	0
FAM91A1	157769	broad.mit.edu	37	8	124787454	124787454	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:124787454C>T	ENST00000334705.7	+	3	471	c.225C>T	c.(223-225)ctC>ctT	p.L75L	FAM91A1_ENST00000521166.1_Silent_p.L75L	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	75										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAGATCATCTCATGCTGTACC	0.388000													35	39					0	0	0.812448	0	0
RYR1	6261	broad.mit.edu	37	19	38966040	38966040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:38966040G>A	ENST00000355481.4	+	29	4374	c.4243G>A	c.(4243-4245)Gtg>Atg	p.V1415M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1415M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1415M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1415	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACGACGTGGTGCCTGCAGA	0.607000													19	30					0	0	0.639603	0	0
COCH	1690	broad.mit.edu	37	14	31349663	31349663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:31349663C>T	ENST00000460581.2	+	5	652	c.106C>T	c.(106-108)Cga>Tga	p.R36*	COCH_ENST00000475087.1_Nonsense_Mutation_p.R148*|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Nonsense_Mutation_p.R148*|COCH_ENST00000396618.3_Nonsense_Mutation_p.R148*			O43405	COCH_HUMAN	cochlin	148	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTCAGGTAAACGACTAAAGAA	0.413000													8	12					0	0	0.387290	0	0
GP2	2813	broad.mit.edu	37	16	20322574	20322574	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:20322574G>T	ENST00000302555.5	-	11	1725	c.1576C>A	c.(1576-1578)Ctg>Atg	p.L526M	GP2_ENST00000341642.5_Missense_Mutation_p.L379M|GP2_ENST00000381362.4_Missense_Mutation_p.L529M|GP2_ENST00000381360.5_Missense_Mutation_p.L382M			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	529						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGACAGTCAGGAGGACCATA	0.522000													38	48					8.30282e-39	1.27033e-38	0.870114	1	0
ZNF573	126231	broad.mit.edu	37	19	38262256	38262256	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:38262256C>T	ENST00000590414.2	-	2	171	c.150G>A	c.(148-150)agG>agA	p.R50R	ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000536220.1_5'UTR			Q86YE8	ZN573_HUMAN	zinc finger protein 573	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGTATAAGTCCCTCTGATTAG	0.418000													16	24					0	0	0.539581	0	0
PTPN21	11099	broad.mit.edu	37	14	88983603	88983603	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:88983603G>A	ENST00000556564.1	-	3	467	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PTPN21_ENST00000328736.3_Silent_p.V61V|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	61	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAAGTAAGTGACCTGGAAAG	0.433000													14	52					0	0	0.539581	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610812	50610812	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:50610812C>T	ENST00000371824.1	+	2	450	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	ELAVL4_ENST00000371827.1_Missense_Mutation_p.L65F|ELAVL4_ENST00000371819.1_Missense_Mutation_p.L70F|ELAVL4_ENST00000371823.4_Missense_Mutation_p.L65F|ELAVL4_ENST00000371821.1_Missense_Mutation_p.L70F|ELAVL4_ENST00000357083.4_Missense_Mutation_p.L82F|ELAVL4_ENST00000448907.2_Missense_Mutation_p.L68F|ELAVL4_ENST00000492299.1_3'UTR			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	65	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATTCAGGAGTCTCTTCGGGAG	0.433000													13	78					0	0	0.479597	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	32					1.8453e-21	2.45505e-21	0.853193	1	0
MT-CO3	4514	broad.mit.edu	37	MT	9985	9985	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrM:9985G>A	ENST00000362079.2	+	1	779	c.779G>A	c.(778-780)gGg>gAg	p.G260E						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CTATTGATGAGGGTCTTACTC	0.343000													3	0					0	0	0.115264	0	0
CDC27	996	broad.mit.edu	37	17	45219270	45219270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:45219270C>T	ENST00000066544.3	-	12	1593	c.1500G>A	c.(1498-1500)tgG>tgA	p.W500*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	500					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGCACAGTACCCAACCAGTAT	0.353000													6	225					0	0	0.411799	0	0
EEF1B2	1933	broad.mit.edu	37	2	207026135	207026135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:207026135G>C	ENST00000392222.2	+	3	644	c.269G>C	c.(268-270)aGt>aCt	p.S90T	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S90T|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S90T	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	90						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						ACTACAGGAAGTGGAGCTACA	0.438000													58	80					0	0	0.870114	0	0
LINC00477	144360	broad.mit.edu	37	12	24736473	24736473	+	RNA	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:24736473C>T	ENST00000483544.1	-	0	629					NR_029451.2																						TGGCCATCTCCCATGCCTCTG	0.517000													20	25					0	0	0.667858	0	0
TOP2A	7153	broad.mit.edu	37	17	38564286	38564286	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:38564286C>G	ENST00000423485.1	-	12	1591	c.1433G>C	c.(1432-1434)aGa>aCa	p.R478T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	478					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATATTTGTCTCTCCCAACCAC	0.428000													19	37					0	0	0.624587	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576460	111576460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:111576460G>T	ENST00000261486.5	-	10	1119	c.843C>A	c.(841-843)tgC>tgA	p.C281*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	281	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGAGGTGCTTGCAAGCAGTTT	0.343000													24	6					1.48458e-05	1.62244e-05	0.788014	1	0
C2orf42	54980	broad.mit.edu	37	2	70392294	70392294	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:70392294C>G	ENST00000264434.2	-	8	1662	c.1283G>C	c.(1282-1284)gGa>gCa	p.G428A	C2orf42_ENST00000420306.1_Missense_Mutation_p.G428A	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	428										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GGAAAAGGTTCCCAGTGGCAA	0.353000													28	30					0	0	0.740014	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101255	80101255	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:80101255G>A	ENST00000466387.1	+	10	1363	c.639G>A	c.(637-639)ctG>ctA	p.L213L	CTNNA2_ENST00000402739.4_Silent_p.L213L|CTNNA2_ENST00000496558.1_Silent_p.L213L|CTNNA2_ENST00000541047.1_Silent_p.L213L|CTNNA2_ENST00000540488.1_Silent_p.L213L|CTNNA2_ENST00000361291.4_Silent_p.L247L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	213					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGGGGCTCTGAAGAAGAATG	0.517000													26	23					0	0	0.717897	0	0
MFSD9	84804	broad.mit.edu	37	2	103353184	103353184	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:103353184C>T	ENST00000258436.5	-	1	129	c.86G>A	c.(85-87)gGa>gAa	p.G29E		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	29					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGCCTCGGTTCCTGTCTTCTG	0.677000													22	28					0	0	0.608945	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708376	108708376	+	Missense_Mutation	SNP	C	C	A	rs149453194	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrX:108708376C>A	ENST00000218006.2	-	3	1318	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	343					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						CTTACTTGATCGAACTCCAGC	0.433000													61	7					8.40228e-50	1.33911e-49	0.870114	1	0
HIRA	7290	broad.mit.edu	37	22	19393309	19393309	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:19393309C>T	ENST00000263208.5	-	5	653	c.397G>A	c.(397-399)Gat>Aat	p.D133N	HIRA_ENST00000340170.4_Splice_Site_p.D133N|HIRA_ENST00000546308.1_Splice_Site_p.D89N|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Splice_Site_p.D89N	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	133					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCCCACTCACCGCCTGAATGA	0.607000													22	37					0	0	0.654019	0	0
A2M	2	broad.mit.edu	37	12	9262584	9262584	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:9262584C>A	ENST00000318602.7	-	6	859	c.552G>T	c.(550-552)gaG>gaT	p.E184D		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	184					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)	TGAGGCCACCCTCTAACTGGA	0.463000													37	54					1.57945e-13	1.91791e-13	0.859065	1	0
NMBR	4829	broad.mit.edu	37	6	142409788	142409788	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:142409788G>C	ENST00000258042.1	-	1	148	c.8C>G	c.(7-9)tCt>tGt	p.S3C	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	3					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGAGACTTAGAGGGCATGAT	0.597000													14	25					0	0	0.575678	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922018	78922018	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:78922018C>A	ENST00000261751.3	-	5	740	c.629G>T	c.(628-630)aGg>aTg	p.R210M	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	210					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GTTCACTGTCCTTCTCCCTGG	0.552000													67	100					1.22047e-21	1.63799e-21	0.870114	1	0
SLC6A19	340024	broad.mit.edu	37	5	1219713	1219713	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:1219713C>T	ENST00000304460.10	+	10	1528	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	491					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TATGCCGGCTCCATTCCCCTG	0.592000													30	80					0	0	0.750413	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			18	7					0	0	0.557998	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671170	22671170	+	RNA	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:22671170C>T	ENST00000390460.1	+	0	235																											AATGGCCTCTCTGGCAATCGC	0.493000													22	29					0	0	0.667858	0	0
SLC24A1	9187	broad.mit.edu	37	15	65918083	65918083	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:65918083G>T	ENST00000261892.6	+	2	1952	c.1665G>T	c.(1663-1665)tgG>tgT	p.W555C	SLC24A1_ENST00000546330.1_Missense_Mutation_p.W555C|SLC24A1_ENST00000339868.6_Missense_Mutation_p.W555C|SLC24A1_ENST00000544319.2_Missense_Mutation_p.W555C|SLC24A1_ENST00000399033.4_Missense_Mutation_p.W555C|SLC24A1_ENST00000537259.1_Missense_Mutation_p.W555C	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	555					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTCACCTGGTGGCCCTTAT	0.522000													47	65					1.21353e-23	1.67271e-23	0.870114	1	0
PCYT1A	5130	broad.mit.edu	37	3	195975136	195975136	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:195975136G>A	ENST00000292823.2	-	5	448	c.276C>T	c.(274-276)caC>caT	p.H92H	PCYT1A_ENST00000431016.1_Silent_p.H92H|RP11-447L10.1_ENST00000431391.1_3'UTR|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Silent_p.H92H	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	92	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GAGCTCGGGCGTGACCAGAGT	0.413000													4	107					0	0	0.217242	0	0
CDYL2	124359	broad.mit.edu	37	16	80646693	80646693	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:80646693C>T	ENST00000570137.2	-	5	1203	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	CDYL2_ENST00000566173.1_Missense_Mutation_p.V351M|CDYL2_ENST00000562812.1_Missense_Mutation_p.V351M|CDYL2_ENST00000563890.1_Missense_Mutation_p.V351M	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATGGCCACCACGATAGGCTTC	0.562000													27	55					0	0	0.760397	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10206748	10206748	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:10206748G>A	ENST00000253109.4	-	2	730	c.492C>T	c.(490-492)ttC>ttT	p.F164F	ANGPTL6_ENST00000592641.1_Silent_p.F164F|ANGPTL6_ENST00000589181.1_Silent_p.F164F	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	164					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCAGCTCGCGGAACTTGACGT	0.741000													11	12					0	0	0.575678	0	0
PIWIL3	440822	broad.mit.edu	37	22	25131817	25131817	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:25131817C>T	ENST00000332271.5	-	13	1908	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	PIWIL3_ENST00000533313.1_Missense_Mutation_p.E389K|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E389K|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	498					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGGGTAATTCTCTTATTTCT	0.373000													37	87					0	0	0.870114	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377931	125377931	+	Missense_Mutation	SNP	G	G	A	rs112809062		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:125377931G>A	ENST00000297913.2	+	1	984	c.915G>A	c.(913-915)atG>atA	p.M305I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGAAATGGATGAGCAGAATGC	0.443000													32	24					0	0	0.804634	0	0
OR2A12	346525	broad.mit.edu	37	7	143793013	143793013	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:143793013G>C	ENST00000408949.2	+	1	873	c.813G>C	c.(811-813)aaG>aaC	p.K271N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AACGGAGGAAGATCCTTTCCC	0.522000													6	262					0	0	0.248553	0	0
LGR6	59352	broad.mit.edu	37	1	202205106	202205106	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:202205106C>G	ENST00000367278.3	+	4	502	c.413C>G	c.(412-414)cCg>cGg	p.P138R	LGR6_ENST00000439764.2_Missense_Mutation_p.P95R|LGR6_ENST00000255432.7_Missense_Mutation_p.P86R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	138						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						TGGGAGCTGCCGAGCCTGCAG	0.607000													3	56					0	0	0.115264	0	0
UGGT2	55757	broad.mit.edu	37	13	96579318	96579318	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:96579318C>A	ENST00000376747.3	-	19	2234	c.2164G>T	c.(2164-2166)Gta>Tta	p.V722L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	722					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTGCAATTACAGCACTCTTA	0.279000													4	13					0.0215528	0.0222809	0.217242	1	0
ISX	91464	broad.mit.edu	37	22	35463109	35463109	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:35463109G>A	ENST00000308700.6	+	1	981	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	ISX_ENST00000404699.2_Missense_Mutation_p.C10Y|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCTGCTCTCTGCAGGGGTATG	0.602000													22	24					0	0	0.706142	0	0
DIO3	1735	broad.mit.edu	37	14	102028171	102028171	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:102028171C>T	ENST00000359323.3	+	1	484	c.260C>T	c.(259-261)tCg>tTg	p.S87L	DIO3_ENST00000510508.4_Missense_Mutation_p.S113L	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	87					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACCCTGGCGTCGCTCAAGGCG	0.662000													6	73					0	0	0.248553	0	0
TNXB	7148	broad.mit.edu	37	6	32029938	32029938	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:32029938C>A	ENST00000375244.3	-	20	7365	c.7164G>T	c.(7162-7164)gtG>gtT	p.V2388V	TNXB_ENST00000375247.2_Silent_p.V2388V			P22105	TENX_HUMAN	tenascin XB	2450	Fibronectin type-III 16.				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						ACTCACCTGTCACCCCGATGG	0.627000													14	16					3.45872e-05	3.75308e-05	0.500413	1	0
SH3BP1	23616	broad.mit.edu	37	22	38061710	38061710	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:38061710G>T	ENST00000599616.1	+	16	1650	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	PDXP_ENST00000215904.6_Missense_Mutation_p.E241D|PDXP_ENST00000403251.1_Missense_Mutation_p.E24D			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	0					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ACCGCCTGGAGACCGACATCC	0.647000													68	150					2.16659e-41	3.34836e-41	0.870114	1	0
MUC16	94025	broad.mit.edu	37	19	9085867	9085867	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:9085867G>A	ENST00000397910.4	-	1	6151	c.5948C>T	c.(5947-5949)tCc>tTc	p.S1983F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1983	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						TGGTTGAGTGGACTGTTCAAT	0.478000													58	34					0	0	0.870114	0	0
TPTE2	93492	broad.mit.edu	37	13	20012283	20012283	+	Silent	SNP	C	C	T	rs148526550		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:20012283C>T	ENST00000400230.2	-	14	1028	c.984G>A	c.(982-984)ggG>ggA	p.G328G	TPTE2_ENST00000382975.4_Silent_p.G288G|TPTE2_ENST00000255310.6_Silent_p.G251G|TPTE2_ENST00000382978.1_Silent_p.G288G|TPTE2_ENST00000400103.2_Silent_p.G217G|TPTE2_ENST00000382977.4_Silent_p.G328G|TPTE2_ENST00000390680.2_Silent_p.G251G|TPTE2_ENST00000457266.2_Silent_p.G217G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	328	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCATAGTCCCGGTTCttc	0.343000													5	65					0	0	0.307466	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595162	129595162	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:129595162G>A	ENST00000373464.4	+	3	638	c.374G>A	c.(373-375)gGa>gAa	p.G125E	ZBTB43_ENST00000449886.1_Missense_Mutation_p.G125E|ZBTB43_ENST00000373457.1_Missense_Mutation_p.G125E	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GTTTTAGAGGGAAACCCTACA	0.483000													15	24					0	0	0.520397	0	0
MKS1	54903	broad.mit.edu	37	17	56290434	56290434	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:56290434T>C	ENST00000393119.2	-	8	841	c.767A>G	c.(766-768)gAg>gGg	p.E256G	MKS1_ENST00000546108.1_Missense_Mutation_p.E53G|MKS1_ENST00000337050.7_Missense_Mutation_p.E256G|MKS1_ENST00000537529.2_Missense_Mutation_p.E246G|MKS1_ENST00000313863.6_Missense_Mutation_p.E256G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	256					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCTGCTTCTCCCCCTCCGT	0.552000													3	117					0	0	0.248553	0	0
KRT8P12	90133	broad.mit.edu	37	3	160285923	160285923	+	RNA	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:160285923G>C	ENST00000468527.1	+	0	934																											CCAGGAGAAGGAGCAGATCAA	0.542000													29	60					0	0	0.760397	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644287	20644287	+	RNA	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:20644287G>T	ENST00000428453.1	-	0	3276																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCGTGTGCAGCAGTGCCACC	0.632000													29	117					1.31171e-36	1.98704e-36	0.870114	1	0
XIRP2	129446	broad.mit.edu	37	2	168105238	168105238	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:168105238C>A	ENST00000409195.1	+	9	7425	c.7336C>A	c.(7336-7338)Ctg>Atg	p.L2446M	XIRP2_ENST00000409273.1_Missense_Mutation_p.L2224M|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2446M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2271					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						CAAAGTTGAACTGGCAACCTC	0.423000													41	59					9.58827e-17	1.20246e-16	0.870114	1	0
OR10Q1	219960	broad.mit.edu	37	11	57996150	57996150	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:57996150G>A	ENST00000316770.2	-	1	240	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGTTGGACAGGAAGAAATACA	0.532000													33	67					0	0	0.834066	0	0
GCFC2	6936	broad.mit.edu	37	2	75915023	75915023	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:75915023C>T	ENST00000321027.3	-	11	1753	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	GCFC2_ENST00000409857.3_Silent_p.K502K|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	540					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TACTTTCCTTCTTTGAATCTT	0.338000													15	35					0	0	0.520397	0	0
EGF	1950	broad.mit.edu	37	4	110884383	110884383	+	Missense_Mutation	SNP	C	C	A	rs150311153	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:110884383C>A	ENST00000265171.5	+	9	1812	c.1367C>A	c.(1366-1368)cCa>cAa	p.P456Q	EGF_ENST00000509793.1_Missense_Mutation_p.P414Q|EGF_ENST00000503392.1_Missense_Mutation_p.P456Q	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	456	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTCTTAGCCCAGTATCCTGG	0.448000													83	19					8.84886e-50	1.39575e-49	0.870114	1	0
BTAF1	9044	broad.mit.edu	37	10	93751881	93751881	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:93751881A>G	ENST00000265990.6	+	21	3168	c.2860A>G	c.(2860-2862)Acc>Gcc	p.T954A		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	954					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTAGGATCCACCTCAGAAAA	0.358000													14	27					0	0	0.457914	0	0
MYOM2	9172	broad.mit.edu	37	8	2040194	2040194	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:2040194C>T	ENST00000262113.4	+	16	1990	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	MYOM2_ENST00000523438.1_Missense_Mutation_p.R42W	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	617	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGCTCCGGGTCGGGTTCTTGC	0.547000													98	131					0	0	0.870114	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895231	24895231	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:24895231G>T	ENST00000382071.2	+	4	412	c.327G>T	c.(325-327)atG>atT	p.M109I	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.M109I|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	109	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CAGGGCCCATGGGAGAGAAGG	0.582000													20	19					3.51602e-12	4.13808e-12	0.575678	1	0
NLRP6	171389	broad.mit.edu	37	11	281667	281667	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:281667G>A	ENST00000534750.1	+	4	2138	c.1933G>A	c.(1933-1935)Gcg>Acg	p.A645T	NLRP6_ENST00000312165.5_Missense_Mutation_p.A645T	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	645						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCGGAGCTGGCGCTGCAGCG	0.647000													83	93					0	0	0.870114	0	0
RPL18A	6142	broad.mit.edu	37	19	17972200	17972200	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:17972200C>A	ENST00000600147.1	+	2	153	c.117C>A	c.(115-117)gtC>gtA	p.V39V	RPL18A_ENST00000599898.1_Intron|RPL18A_ENST00000222247.5_Silent_p.V39V|RPL18A_ENST00000599870.1_Silent_p.V10V			Q02543	RL18A_HUMAN	ribosomal protein L18a	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						ATCATGTCGTCGCCAAGTCCC	0.552000													11	9					2.32078e-09	2.64985e-09	0.479597	1	0
MT-ND5	4540	broad.mit.edu	37	MT	12986	12986	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrM:12986T>C	ENST00000361567.2	+	1	650	c.650T>C	c.(649-651)cTc>cCc	p.L217P				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	217					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	ACTAGGCCTCCTCCTAGCAGC	0.542000													10	0					0	0	0.435327	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355258	70355258	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:70355258C>T	ENST00000305107.6	-	3	947	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UGT2B4_ENST00000381096.3_Missense_Mutation_p.E165K|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E301K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	301					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACACCATTTTCTCCAGAGCTC	0.403000													69	16					0	0	0.870114	0	0
MAPK10	5602	broad.mit.edu	37	4	87022213	87022213	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:87022213T>G	ENST00000395169.3	-	8	1328	c.608A>C	c.(607-609)aAg>aCg	p.K203T	MAPK10_ENST00000359221.3_Missense_Mutation_p.K241T|MAPK10_ENST00000395166.1_Missense_Mutation_p.K203T|MAPK10_ENST00000395161.2_Missense_Mutation_p.K241T|MAPK10_ENST00000449047.2_Missense_Mutation_p.K96T|MAPK10_ENST00000361569.2_Missense_Mutation_p.K241T|MAPK10_ENST00000395160.3_Missense_Mutation_p.K96T|MAPK10_ENST00000395157.3_Missense_Mutation_p.K96T	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	241	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACCGTTCTCCTTGTAGCCCAT	0.498000													39	11					0	0	0.870114	0	0
ARHGDIA	396	broad.mit.edu	37	17	79826899	79826899	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:79826899G>A	ENST00000269321.7	-	6	603	c.468C>T	c.(466-468)taC>taT	p.Y156Y	ARHGDIA_ENST00000581876.1_Silent_p.Y81Y|ARHGDIA_ENST00000541078.2_Silent_p.Y156Y|ARHGDIA_ENST00000584461.1_Silent_p.Y156Y|ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000580685.1_Silent_p.Y156Y	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	156					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCAGGAACTCGTACTCCTCGG	0.652000													21	24					0	0	0.667858	0	0
ZNF536	9745	broad.mit.edu	37	19	31040189	31040189	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:31040189G>T	ENST00000355537.3	+	4	3810	c.3663G>T	c.(3661-3663)ctG>ctT	p.L1221L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1221					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)					TCCAGGGACTGGTCTCACCTT	0.647000													25	26					4.62619e-21	6.10178e-21	0.796494	1	0
COL11A1	1301	broad.mit.edu	37	1	103461428	103461428	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:103461428C>A	ENST00000358392.2	-	28	2685	c.2368G>T	c.(2368-2370)Ggt>Tgt	p.G790C	COL11A1_ENST00000512756.1_Missense_Mutation_p.G662C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G739C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G778C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	778	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)		ACCTTTTCACCTTTAGATCCC	0.269000													52	40					8.52622e-23	1.16474e-22	0.870114	1	0
ZNF638	27332	broad.mit.edu	37	2	71651159	71651159	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:71651159C>A	ENST00000409544.1	+	22	5145	c.4515C>A	c.(4513-4515)agC>agA	p.S1505R	ZNF638_ENST00000409407.1_Missense_Mutation_p.S445R|ZNF638_ENST00000264447.4_Missense_Mutation_p.S1505R|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1505					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGGATGACAGCAACAATAAGG	0.433000													15	28					8.28177e-16	1.03017e-15	0.557998	1	0
NOVA2	4858	broad.mit.edu	37	19	46443268	46443268	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:46443268C>T	ENST00000263257.5	-	4	1526	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	444	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ACTCGCCCTTCTTGGAGATCT	0.657000													68	118					0	0	0.870114	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													3	136					0	0	0.184627	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33614431	33614431	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:33614431C>A	ENST00000504830.1	-	16	2774	c.2439G>T	c.(2437-2439)caG>caT	p.Q813H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q728H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	813	Spacer 1.				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						GGCCATCTTTCTGGATTGTGT	0.478000										HNSCC(64;0.19)			21	72					3.1745e-13	3.79452e-13	0.729181	1	0
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													7	245	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													7	113	---	---	---	---					
PCM1	5108	broad.mit.edu	37	8	17868136	17868137	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:17868136_17868137insTC	ENST00000325083.8	+	32	5618_5619	c.5179_5180insTC	c.(5179-5181)gatfs	p.D1727fs	PCM1_ENST00000524226.1_Frame_Shift_Ins_p.D1673fs|PCM1_ENST00000327578.8_Frame_Shift_Ins_p.D426fs|PCM1_ENST00000519253.1_Frame_Shift_Ins_p.D1719fs	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1727	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GATTCTTGAAGATCATGGCTCA	0.386			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								12	15	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49420342	49420343	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:49420342_49420343insGC	ENST00000301067.7	-	48	15405_15406	c.15406_15407insGC	c.(15406-15408)catfs	p.H5136fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTTGATCTTATGCATTGGACAC	0.520													53	76	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49447042	49447042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:49447042delA	ENST00000301067.7	-	7	901	c.902delT	c.(901-903)ttcfs	p.F301fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTTTAGGCAGAAAGTATGGTA	0.488													92	117	---	---	---	---					
KRT84	3890	broad.mit.edu	37	12	52771821	52771822	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:52771821_52771822insTA	ENST00000257951.3	-	9	1865_1866	c.1799_1800insTA	c.(1798-1800)tacfs	p.Y600fs		NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	600	Tail.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGCTCTCAGTACTTGGTCCG	0.688													4	7	---	---	---	---					
HDC	3067	broad.mit.edu	37	15	50557790	50557791	+	Splice_Site	DEL	CT	CT	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:50557790_50557791delCT	ENST00000267845.3	-	1	432_433	c.30_31delAG	c.(28-33)agaggg>aggg	p.G11fs	HDC_ENST00000543581.1_Splice_Site_p.G11fs	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	11					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTTGCTCACCTCTCTCTCTGT	0.599													8	80	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049881	2049883	+	In_Frame_Del	DEL	CGT	CGT	-	rs61746014	by1000genomes	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:2049881_2049883delCGT	ENST00000563630.1	-	9	1744_1746	c.1502_1504delACG	c.(1501-1506)gacggc>ggc	p.D501del	ZNF598_ENST00000431526.1_In_Frame_Del_p.D556del|ZNF598_ENST00000562103.1_In_Frame_Del_p.D501del			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCCGGGCCGCCGTCCTCCTCCTC	0.700													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5472546	5472546	+	RNA	DEL	C	C	-	rs141469541	by1000genomes	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:5472546delC	ENST00000569895.1	+	0	304																											atgaggggggcagggaggggg	0.632													5	2	---	---	---	---					
SMG1P7	100506060	broad.mit.edu	37	16	70255130	70255130	+	RNA	DEL	A	A	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:70255130delA	ENST00000581050.1	-	0	1436					NR_033959.1																						TACACAATGTACATTTATCTC	0.358													2	4	---	---	---	---					
GJD3	125111	broad.mit.edu	37	17	38519337	38519339	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:38519337_38519339delGGC	ENST00000578774.1	+	2	486_488	c.149_151delGGC	c.(148-153)tggcgg>tgg	p.R55del	GJD3_ENST00000337376.4_Splice_Site_p.243_244PP>P|GJD3_ENST00000578689.1_In_Frame_Del_p.243_244PP>P																							tggcggaggtggcggcggcggcg	0.803													2	4	---	---	---	---					
GRIN2C	2905	broad.mit.edu	37	17	72839417	72839418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:72839417_72839418insG	ENST00000293190.5	-	13	3004_3005	c.2858_2859insC	c.(2857-2859)ccafs	p.P953fs		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	953					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGCTCGGCTCTGGGGGCGGGTC	0.817													2	4	---	---	---	---					
LOC727993	727993	broad.mit.edu	37	20	1978465	1978466	+	RNA	DEL	TC	TC	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr20:1978465_1978466delTC	ENST00000446562.1	+	0	1216																											GTGCTCATCAtctctctctctc	0.540													2	4	---	---	---	---					
TMEM191A	84222	broad.mit.edu	37	22	21057064	21057076	+	RNA	DEL	AGGATCCGGGGGT	AGGATCCGGGGGT	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:21057064_21057076delAGGATCCGGGGGT	ENST00000450925.2	+	0	1317					NR_026815.1																						ggaagggggcaggatccgggggtggggtgaggt	0.709													2	4	---	---	---	---					
