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
RIMS1	22999	broad.mit.edu	37	6	73102473	73102473	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:73102473C>A	ENST00000264839.7	+	27	4126	c.4126C>A	c.(4126-4128)Cag>Aag	p.Q1376K	RIMS1_ENST00000491071.2_Missense_Mutation_p.Q1350K|RIMS1_ENST00000517827.1_Missense_Mutation_p.Q661K|RIMS1_ENST00000425662.2_Missense_Mutation_p.Q595K|RIMS1_ENST00000538414.1_Missense_Mutation_p.Q333K|RIMS1_ENST00000401910.3_Missense_Mutation_p.Q847K|RIMS1_ENST00000520567.1_Missense_Mutation_p.Q1177K|RIMS1_ENST00000522291.1_Missense_Mutation_p.Q1126K|RIMS1_ENST00000414192.2_Missense_Mutation_p.Q54K|RIMS1_ENST00000517960.1_Missense_Mutation_p.Q1310K|RIMS1_ENST00000521978.1_Missense_Mutation_p.Q1527K|RIMS1_ENST00000348717.5_Missense_Mutation_p.Q1310K|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.Q1206K|RIMS1_ENST00000523963.1_Missense_Mutation_p.Q652K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1527	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACCAGCCCAGCTTGTTGG	0.403000													17	56					7.87624e-14	8.30586e-14	1	1	0
OR2H1	26716	broad.mit.edu	37	6	29430168	29430168	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:29430168C>T	ENST00000377136.1	+	4	1087	c.622C>T	c.(622-624)Cct>Tct	p.P208S	OR2H1_ENST00000377133.1_Missense_Mutation_p.P208S|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.P208S|OR2H1_ENST00000396792.2_Missense_Mutation_p.P208S|OR2H1_ENST00000442615.1_Missense_Mutation_p.P208S			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CGTGGTTGTGCCTCTCAGCCT	0.522000													4	142					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29118773	29118773	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr18:29118773C>T	ENST00000261590.8	+	12	1920	c.1711C>T	c.(1711-1713)Ctg>Ttg	p.L571L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	571					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AATTCAGTTCCTGATTTCAGA	0.463000													10	37					0	0	1	0	0
AC005863.1	0	broad.mit.edu	37	17	14683245	14683245	+	RNA	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr17:14683245C>T	ENST00000379640.1	-	0	275																											TCCTCTGCTTCGGTGGAATAA	0.517000													21	49					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4823016	4823016	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr7:4823016G>A	ENST00000348624.4	+	4	530	c.436G>A	c.(436-438)Gag>Aag	p.E146K	AP5Z1_ENST00000401897.1_Missense_Mutation_p.E146K	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	146					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CCGGCAGCCTGAGGGACCCAG	0.667000													10	27					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38932037	38932037	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38932037C>G	ENST00000274276.3	+	16	2667	c.2265C>G	c.(2263-2265)atC>atG	p.I755M		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	755					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCTTGCTCATCATGGTCATGT	0.393000													41	163					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082963	140082963	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr9:140082963C>A	ENST00000323927.2	-	1	26	c.22G>T	c.(22-24)Gcg>Tcg	p.A8S		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	8					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCCCCCTCCGCCACCACAACT	0.716000													10	13					2.80697e-09	2.90722e-09	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5154030	5154030	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr12:5154030C>T	ENST00000252321.3	+	1	946	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	239						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I239I(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGTGGCTTATCTTCGAGTATC	0.602000													38	81					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874927	20874927	+	RNA	SNP	T	T	A	rs62000629	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr15:20874927T>A	ENST00000556948.1	-	0	321																											GCAGTTCCAATAAATTCAGCA	0.313000													8	44					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	61					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1482932	1482932	+	Silent	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:1482932G>A	ENST00000300954.5	-	13	1720	c.1659C>T	c.(1657-1659)acC>acT	p.T553T		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	553					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGGCCCAGGGTCCACACGC	0.622000													20	23					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462957	120462957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:120462957G>A	ENST00000256646.2	-	30	5593	c.5374C>T	c.(5374-5376)Cag>Tag	p.Q1792*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1792					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAGGTGCTGCTGTGTCCAT	0.537000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				31	248					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1278834	1278834	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:1278834C>T	ENST00000310581.5	-	6	2265	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	TERT_ENST00000508104.2_Silent_p.Q736Q|TERT_ENST00000334602.6_Silent_p.Q736Q|TERT_ENST00000296820.5_Silent_p.Q736Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	736	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGTACGTGTTCTGGGGTTTGA	0.612000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				217	672					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31901989	31901989	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:31901989C>T	ENST00000299367.5	+	6	1038	c.762C>T	c.(760-762)aaC>aaT	p.N254N	CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Silent_p.N254N|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Silent_p.N122N	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GTCATCTGAACCTCTACCTGC	0.542000													45	124					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38932592	38932592	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38932592C>T	ENST00000274276.3	+	17	2724	c.2322C>T	c.(2320-2322)atC>atT	p.I774I		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	774					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATCCTGACATCCCTGACCCTT	0.393000													23	80					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071077	102071077	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr12:102071077G>A	ENST00000549145.1	+	27	3132	c.3032G>A	c.(3031-3033)gGg>gAg	p.G1011E	MYBPC1_ENST00000392934.3_Missense_Mutation_p.G967E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G961E|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G980E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G998E|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G998E|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G1005E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G881E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G1005E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G998E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G998E|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G966E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G954E|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G980E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G968E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	998	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTGGTCATAGGGAATGAATAT	0.413000													21	46					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123313098	123313098	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr9:123313098T>C	ENST00000349780.4	-	4	457	c.278A>G	c.(277-279)cAt>cGt	p.H93R	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H93R|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H93R|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H93R	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	93					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGTGGGGCCATGAAATTCCTG	0.368000													27	72					0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275436	17275436	+	Silent	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:17275436G>A	ENST00000322611.3	+	2	371	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	37					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGGGGACCCCGAAGGAGAGTG	0.647000													5	38					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150769149	150769149	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr7:150769149C>T	ENST00000485713.1	+	16	3501	c.2461C>T	c.(2461-2463)Cgc>Tgc	p.R821C	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R807C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R821C|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R812C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R739C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	821	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCGTCTCCCGCTTCACCCA	0.607000													46	121					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7174404	7174404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr12:7174404C>T	ENST00000406697.1	+	12	1677	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.S350F|C1S_ENST00000402681.3_Missense_Mutation_p.S183F|C1S_ENST00000360817.5_Missense_Mutation_p.S350F			P09871	C1S_HUMAN	complement component 1, s subcomponent	350	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGGAGTAATTCCAAACTGAAA	0.378000													11	40					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37179517	37179517	+	Silent	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:37179517G>A	ENST00000274258.7	-	29	5993	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F	C5orf42_ENST00000508244.1_Silent_p.F1922F|C5orf42_ENST00000425232.2_Silent_p.F1922F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1922										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGACTTCTGAAACCTCCAA	0.343000													104	291					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584292	138584292	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:138584292G>A	ENST00000251691.4	+	12	1838	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	558					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGCGGTAGACCAGCCAGA	0.527000													13	31					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57869174	57869174	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:57869174A>G	ENST00000391705.3	+	4	2221	c.1937A>G	c.(1936-1938)aAc>aGc	p.N646S	ZNF304_ENST00000282286.5_Missense_Mutation_p.N646S|ZNF304_ENST00000598744.1_Missense_Mutation_p.N604S|ZNF304_ENST00000443917.2_Missense_Mutation_p.N693S	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CACGAGTGCAACAGTTTTGGT	0.438000													34	56					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45285749	45285749	+	Splice_Site	SNP	G	G	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:45285749G>C	ENST00000270279.3	+	4	842		c.e4+1		CBLC_ENST00000341505.4_Splice_Site	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase						cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGCCAGGCAGGTAAAGGGTCC	0.612000			M		AML								20	19					0	0	1	0	0
ZNF397	84307	broad.mit.edu	37	18	32823176	32823176	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr18:32823176T>A	ENST00000330501.7	+	3	628	c.475T>A	c.(475-477)Tcc>Acc	p.S159T	ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000592264.1_Missense_Mutation_p.S159T|ZNF397_ENST00000591206.1_Missense_Mutation_p.S159T|ZNF397_ENST00000355632.4_Missense_Mutation_p.S159T|ZNF397_ENST00000585800.1_Missense_Mutation_p.S159T|ZNF397_ENST00000261333.6_Missense_Mutation_p.S159T	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	159					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						TCTCAGAGCATCCCAAGAGTC	0.463000													18	56					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	33					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143742727	143742727	+	Silent	SNP	T	T	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr2:143742727T>C	ENST00000264170.4	+	9	1062	c.804T>C	c.(802-804)gaT>gaC	p.D268D	KYNU_ENST00000409512.1_Silent_p.D268D|KYNU_ENST00000375773.2_Silent_p.D268D	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	268					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGGGAGTTGATTTTGCCTGCT	0.398000													23	47					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000													4	52					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90272323	90272323	+	Splice_Site	SNP	A	A	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr15:90272323A>G	ENST00000268130.7	+	10	1223	c.1123_splice	c.e10+1	p.S374_splice	WDR93_ENST00000560294.1_Splice_Site_p.S374_splice|WDR93_ENST00000444934.2_Splice_Site_p.S91_splice	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	374					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGGCCCCTCAGGTAAATGAA	0.527000													4	101					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296101	20296101	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr14:20296101G>C	ENST00000568211.1	+	1	494	c.494G>C	c.(493-495)cGc>cCc	p.R165P	OR4N2_ENST00000315947.1_Missense_Mutation_p.R165P			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCATCCTCCGCTTGCCTTTT	0.517000													25	112					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356885	67356885	+	Silent	SNP	C	C	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr8:67356885C>G	ENST00000396623.3	+	5	286	c.255C>G	c.(253-255)tcC>tcG	p.S85S	ADHFE1_ENST00000379385.4_Silent_p.S85S|ADHFE1_ENST00000415254.1_Silent_p.S37S|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	85					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGAACCTCTCCAAGCTCCCTC	0.433000													54	127					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407327	148407327	+	Silent	SNP	G	G	A	rs114797709	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:148407327G>A	ENST00000538184.1	-	7	1497	c.609C>T	c.(607-609)gcC>gcT	p.A203A	SH3TC2_ENST00000512049.1_Silent_p.A649A|SH3TC2_ENST00000515425.1_Silent_p.A656A|SH3TC2_ENST00000394358.2_Silent_p.A541A			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	656							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCGCTCGGCAAAGGGCA	0.607000													4	32					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	62					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48319406	48319406	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr7:48319406A>C	ENST00000435803.1	+	18	8639	c.8615A>C	c.(8614-8616)gAg>gCg	p.E2872A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2872					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCAAGAAAGAGATGATTGAC	0.353000													33	60					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38932986	38932986	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38932986C>G	ENST00000274276.3	+	18	2782	c.2380C>G	c.(2380-2382)Cta>Gta	p.L794V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	794					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAACCCTCACCTAATAATAAT	0.368000													19	88					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354740	42354740	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:42354740C>T	ENST00000269945.3	+	8	1014	c.963C>T	c.(961-963)atC>atT	p.I321I	DMRTC2_ENST00000596827.1_Silent_p.I372I	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	321	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CTGCCTGGATCTCCCTGCTTC	0.597000													13	24					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													3	74					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933286	38933286	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38933286C>T	ENST00000274276.3	+	18	3082	c.2680C>T	c.(2680-2682)Cta>Tta	p.L894L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	894					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGAAAATGTACTAAAGGCACT	0.463000													58	224					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718512	142718512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chrX:142718512G>A	ENST00000381779.4	-	2	638	c.413C>T	c.(412-414)gCt>gTt	p.A138V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.A138V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.A138V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	138						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTAGTCAGCCTGGAGATA	0.393000													32	48					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130566807	130566807	+	Silent	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr9:130566807C>T	ENST00000373245.1	+	3	347	c.297C>T	c.(295-297)atC>atT	p.I99I	FPGS_ENST00000373225.3_Silent_p.I49I|FPGS_ENST00000373247.2_Silent_p.I99I|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Silent_p.I99I			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	99					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGAACATCATCCACGTCACTG	0.597000													18	30					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45480719	45480719	+	Splice_Site	SNP	T	T	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:45480719T>C	ENST00000541297.2	+	5	1009		c.e5+2		CLPTM1_ENST00000546079.1_Splice_Site|CLPTM1_ENST00000337392.5_Splice_Site			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1						cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGTCCCGGAGTAAGTCGCTCC	0.627000													25	42					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37179530	37179530	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:37179530G>T	ENST00000274258.7	-	29	5980	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y	C5orf42_ENST00000508244.1_Missense_Mutation_p.S1918Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1918Y			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1918										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACCTCCAACAGATTCTTCAAT	0.353000													84	268					2.48225e-49	2.66612e-49	1	1	0
TERT	7015	broad.mit.edu	37	5	1280341	1280341	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:1280341C>T	ENST00000310581.5	-	4	1939	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	TERT_ENST00000508104.2_Missense_Mutation_p.D628N|TERT_ENST00000334602.6_Missense_Mutation_p.D628N|TERT_ENST00000296820.5_Missense_Mutation_p.D628N	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	628	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCAGCCCGTCAGGCTTGGGG	0.597000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				57	198					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19721457	19721457	+	Splice_Site	SNP	T	T	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:19721457T>G	ENST00000507958.1	-	7	1632	c.643_splice	c.e7+1	p.T214_splice	CDH18_ENST00000502796.1_Splice_Site_p.T214_splice|CDH18_ENST00000382275.1_Splice_Site_p.T214_splice|CDH18_ENST00000511273.1_Splice_Site_p.T214_splice|CDH18_ENST00000274170.4_Splice_Site_p.T214_splice|CDH18_ENST00000506372.1_Splice_Site_p.T214_splice			Q13634	CAD18_HUMAN	cadherin 18, type 2	214	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCACTAACCTGTTTTAGGGT	0.438000													44	493					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931601	144931601	+	Silent	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:144931601G>A	ENST00000529945.1	-	1	547	c.108C>T	c.(106-108)gtC>gtT	p.V36V	PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Silent_p.V36V|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTGCCCAAGACGTGCGAAA	0.547000			T	PDGFRB	MPD								15	179					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396850	179396850	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr2:179396850G>A	ENST00000589042.1	-	358	104716	c.104492C>T	c.(104491-104493)tCa>tTa	p.S34831L	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25766L|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33190L|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S25891L|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32263L|TTN_ENST00000342175.6_Missense_Mutation_p.S25958L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33190							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACGCAGATGAGGATGATTC	0.443000													17	28					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933185	38933185	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38933185C>G	ENST00000274276.3	+	18	2981	c.2579C>G	c.(2578-2580)aCc>aGc	p.T860S		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	860					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAGAACTTGACCTATAACCAG	0.478000													69	283					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933362	38933362	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38933362C>T	ENST00000274276.3	+	18	3158	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	919					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AATTATGTGTCCCAGTTGGCT	0.443000													36	157					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aafs	p.K44fs	ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408													8	60	---	---	---	---					
HIST1H2AG	8969	broad.mit.edu	37	6	27101004	27101005	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:27101004_27101005insA	ENST00000359193.2	+	1	173_174	c.154_155insA	c.(154-156)ggcfs	p.G52fs		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	52					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCCGGTGTATCTGGCAGCGGTG	0.673													21	38	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs140721287	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													4	7	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													4	4	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													4	8	---	---	---	---					
PRKAR1A	5573	broad.mit.edu	37	17	66511682	66511683	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr17:66511682_66511683insAT	ENST00000589228.1	+	2	270_271	c.142_143insAT	c.(142-144)attfs	p.I48fs	PRKAR1A_ENST00000588188.2_Frame_Shift_Ins_p.I48fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Ins_p.I48fs|PRKAR1A_ENST00000536854.2_Frame_Shift_Ins_p.I48fs|PRKAR1A_ENST00000586397.1_Frame_Shift_Ins_p.I48fs|PRKAR1A_ENST00000392711.1_Frame_Shift_Ins_p.I48fs	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	48	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAGACCCATGGCATTCCTCAGG	0.436			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				11	16	---	---	---	---