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
COMMD3	23412	broad.mit.edu	37	10	22608919	22608919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr10:22608919C>T	ENST00000376836.3	+	8	1024	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	COMMD3-BMI1_ENST00000463409.2_Intron|COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000602390.1_Intron	NM_012071.3	NP_036203.1			COMM domain containing 3											kidney(2)|lung(2)|ovary(1)	5						AAGAGCAACTCAGTTGTAACT	0.463000													48	42					0	0	0.000781405	0	0
SRRM2	23524	broad.mit.edu	37	16	2816698	2816698	+	Missense_Mutation	SNP	C	C	T	rs144781002		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:2816698C>T	ENST00000301740.8	+	11	6718	c.6169C>T	c.(6169-6171)Cgt>Tgt	p.R2057C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2057	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCCAGATCCCGTACTCCACG	0.562000													21	40					0	0	0.00152264	0	0
WDR20	91833	broad.mit.edu	37	14	102675478	102675478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:102675478C>T	ENST00000335263.5	+	3	1051	c.971C>T	c.(970-972)cCt>cTt	p.P324L	WDR20_ENST00000499851.2_Missense_Mutation_p.P67L|WDR20_ENST00000556807.1_Missense_Mutation_p.P263L|WDR20_ENST00000556511.2_Missense_Mutation_p.P263L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Missense_Mutation_p.P151L|WDR20_ENST00000454394.2_Missense_Mutation_p.P355L|WDR20_ENST00000424963.2_Missense_Mutation_p.P200L|WDR20_ENST00000342702.3_Missense_Mutation_p.P324L|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	324										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GAAGGTGACCCTATGGAGTTT	0.493000													22	22					0	0	0.000375601	0	0
AGFG1	3267	broad.mit.edu	37	2	228401685	228401685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:228401685C>T	ENST00000310078.7	+	10	1614	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	AGFG1_ENST00000409171.1_Nonsense_Mutation_p.Q452*|AGFG1_ENST00000409979.2_Nonsense_Mutation_p.Q476*|AGFG1_ENST00000409315.1_Nonsense_Mutation_p.Q431*|AGFG1_ENST00000373671.3_Nonsense_Mutation_p.Q412*	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	452					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AAACCCATTTCAGACCAATGC	0.393000													16	81					0	0	0.00152264	0	0
NWD1	284434	broad.mit.edu	37	19	16860971	16860971	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:16860971C>T	ENST00000524140.2	+	6	1936	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	NWD1_ENST00000552788.1_Silent_p.L506L|NWD1_ENST00000549814.1_Silent_p.L506L|NWD1_ENST00000523826.1_Silent_p.L300L|NWD1_ENST00000379808.3_Silent_p.L506L|NWD1_ENST00000339803.6_Silent_p.L371L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	506	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGATCCAACTCCTGCTGGCAG	0.642000													29	59					0	0	0.00178596	0	0
TTN	7273	broad.mit.edu	37	2	179605623	179605623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:179605623C>T	ENST00000589042.1	-	48	12561	c.12337G>A	c.(12337-12339)Gaa>Aaa	p.E4113K	TTN_ENST00000460472.2_Missense_Mutation_p.E3750K|TTN_ENST00000359218.5_Missense_Mutation_p.E3875K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E3796K|TTN_ENST00000342175.6_Missense_Mutation_p.E3942K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3796							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)			GATTGCAATTCCTGAGCTCCC	0.418000													69	66					0	0	0.000781405	0	0
ATP8A2	51761	broad.mit.edu	37	13	26154053	26154053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:26154053C>T	ENST00000381655.2	+	22	2117	c.1975C>T	c.(1975-1977)Cgg>Tgg	p.R659W	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.R619W	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	619					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAGAGCTCAACGGTTGGAAGA	0.443000													15	39					0	0	0.000308642	0	0
MYRF	745	broad.mit.edu	37	11	61543557	61543557	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:61543557C>T	ENST00000278836.5	+	9	1437	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	MYRF_ENST00000265460.5_Silent_p.I438I|MYRF_ENST00000327797.1_Silent_p.I72I|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCATTAACATCGAGCAGTCCC	0.622000													12	29					0	0	0.00185496	0	0
VWC2	375567	broad.mit.edu	37	7	49842315	49842315	+	Silent	SNP	A	A	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:49842315A>T	ENST00000340652.3	+	3	1261	c.705A>T	c.(703-705)ccA>ccT	p.P235P		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	235	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						AGGTGTCTCCATGCGAGAGGT	0.507000													50	115					0	0	0.000781405	0	0
PTPRB	5787	broad.mit.edu	37	12	70981045	70981045	+	Missense_Mutation	SNP	G	G	A	rs3960114		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:70981045G>A	ENST00000334414.6	-	9	2097	c.2053C>T	c.(2053-2055)Ccc>Tcc	p.P685S	PTPRB_ENST00000538708.1_Missense_Mutation_p.P467S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.P377S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P467S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P377S|PTPRB_ENST00000551525.1_Missense_Mutation_p.P684S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P685S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	467	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P467S(2)|p.P685S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGCCAGGGGGACTGAGGAA	0.458000													20	28					0	0	0.000295444	0	0
ADAM7	8756	broad.mit.edu	37	8	24300054	24300054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:24300054C>T	ENST00000175238.6	+	2	204	c.121C>T	c.(121-123)Cga>Tga	p.R41*	ADAM7_ENST00000441335.2_Nonsense_Mutation_p.R41*|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R41*|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	41					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATACAGAAGCGAGATACTGG	0.403000													53	160					0	0	0.000781405	0	0
IL5RA	3568	broad.mit.edu	37	3	3137117	3137117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:3137117G>A	ENST00000446632.2	-	8	1295	c.721C>T	c.(721-723)Cct>Tct	p.P241S	IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000430514.2_Missense_Mutation_p.P241S|IL5RA_ENST00000456302.1_Missense_Mutation_p.P241S|IL5RA_ENST00000256452.3_Missense_Mutation_p.P241S|IL5RA_ENST00000383846.1_Missense_Mutation_p.P241S|IL5RA_ENST00000438560.1_Missense_Mutation_p.P241S|IL5RA_ENST00000311981.8_Missense_Mutation_p.P241S|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	241					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TTCAGTGGAGGATTTATTTGA	0.388000													18	16					0	0	0.00121646	0	0
GALNS	2588	broad.mit.edu	37	16	88904144	88904144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:88904144G>A	ENST00000268695.5	-	5	540	c.452C>T	c.(451-453)cCc>cTc	p.P151L	GALNS_ENST00000542788.1_Missense_Mutation_p.P76L	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	151			P -> L (in MPS4A; severe form).|P -> S (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGCTTCAGGGGGTGGAACTG	0.572000													29	53					0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179605649	179605649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:179605649C>T	ENST00000589042.1	-	48	12535	c.12311G>A	c.(12310-12312)aGc>aAc	p.S4104N	TTN_ENST00000460472.2_Missense_Mutation_p.S3741N|TTN_ENST00000359218.5_Missense_Mutation_p.S3866N|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S3787N|TTN_ENST00000342175.6_Missense_Mutation_p.S3933N|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3787							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)			AAGCTGACTGCTCAATTCATT	0.403000													20	86					0	0	0.00152264	0	0
RYR1	6261	broad.mit.edu	37	19	39019618	39019618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:39019618G>A	ENST00000355481.4	+	75	11178	c.11047G>A	c.(11047-11049)Gaa>Aaa	p.E3683K	RYR1_ENST00000360985.3_Missense_Mutation_p.E3688K|RYR1_ENST00000359596.3_Missense_Mutation_p.E3688K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3688					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)	ggaggaggaggaagaggtgga	0.607000													6	16					0	0	0.00116845	0	0
SNTG1	54212	broad.mit.edu	37	8	51571224	51571224	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:51571224G>A	ENST00000522124.1	+	15	1699		c.e15+1		SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATCCTCAAGGTATGATCAAT	0.373000													17	39					0	0	0.000566183	0	0
TLR7	51284	broad.mit.edu	37	X	12905615	12905615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:12905615G>A	ENST00000380659.3	+	3	2127	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	663					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AATTCCCTAAGTTTCTTGCCT	0.353000													75	32					0	0	0.000781405	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218632	47218632	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:47218632A>G	ENST00000300404.2	+	2	277	c.218A>G	c.(217-219)aAg>aGg	p.K73R	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.K13R|B4GALNT2_ENST00000504681.1_5'UTR	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	73					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGCTCCTCAAGATATTGGTC	0.393000													80	184					0	0	0.000781405	0	0
FABP6	2172	broad.mit.edu	37	5	159661892	159661892	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:159661892G>A	ENST00000393980.4	+	6	602	c.456G>A	c.(454-456)gaG>gaA	p.E152E	FABP6_ENST00000393982.1_Silent_p.E152E|FABP6_ENST00000402432.3_Silent_p.E103E	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	103					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGACCTCAGAGATCGTGGGTG	0.527000													12	36					0	0	0.00185496	0	0
LOC283683	283683	broad.mit.edu	37	15	23108883	23108883	+	RNA	SNP	T	T	C	rs3178813	by1000genomes	TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:23108883T>C	ENST00000557922.1	-	0	246					NR_040057.1																						TTCGACACTATCATCTGCAGA	0.378000													4	67					0	0	0.000602214	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192555	133192555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:133192555G>A	ENST00000388996.4	-	4	1046	c.626C>T	c.(625-627)tCt>tTt	p.S209F	KCNQ3_ENST00000521134.1_Missense_Mutation_p.S89F|KCNQ3_ENST00000519445.1_Missense_Mutation_p.S209F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	209					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACTGGCACAGAGGCAATCAG	0.572000													29	82					0	0	0.00106085	0	0
NCR1	9437	broad.mit.edu	37	19	55420643	55420643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:55420643C>T	ENST00000594765.1	+	4	420	c.395C>T	c.(394-396)cCc>cTc	p.P132L	NCR1_ENST00000338835.5_Missense_Mutation_p.P132L|NCR1_ENST00000598576.1_Missense_Mutation_p.P120L|NCR1_ENST00000291890.4_Missense_Mutation_p.P132L|NCR1_ENST00000357397.5_Missense_Mutation_p.P25L|NCR1_ENST00000350790.5_Missense_Mutation_p.P37L|NCR1_ENST00000447255.1_Missense_Mutation_p.P132L			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	132	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CATCCTGGACCCGAAGTGATC	0.512000													17	34					0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179530158	179530158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:179530158C>T	ENST00000589042.1	-	165	36213	c.35989G>A	c.(35989-35991)Gaa>Aaa	p.E11997K	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10143	Pro-rich.						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)			ATTTTCATTTCAGGGACAACT	0.368000													44	204					0	0	0.000781405	0	0
HCN1	348980	broad.mit.edu	37	5	45262228	45262228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:45262228G>A	ENST00000303230.4	-	8	2525	c.2468C>T	c.(2467-2469)cCc>cTc	p.P823L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	823						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCCCGTTCCGGGGACCGCCGT	0.672000													4	25					0	0	0.000602214	0	0
GBF1	8729	broad.mit.edu	37	10	104140011	104140011	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr10:104140011C>T	ENST00000369983.3	+	37	5141	c.4881C>T	c.(4879-4881)ttC>ttT	p.F1627F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1627					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATAGGTCTTCCTGCAGCACC	0.587000													66	47					0	0	0.000781405	0	0
DMXL2	23312	broad.mit.edu	37	15	51830432	51830432	+	Silent	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:51830432A>G	ENST00000251076.5	-	10	1610	c.1323T>C	c.(1321-1323)ggT>ggC	p.G441G	DMXL2_ENST00000449909.3_Silent_p.G441G|DMXL2_ENST00000543779.2_Silent_p.G441G	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	441						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)		TCATATGTAAACCCCGTTCTC	0.358000													7	110					0	0	0.000274275	0	0
RNF17	56163	broad.mit.edu	37	13	25448326	25448326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:25448326C>T	ENST00000255324.5	+	33	4574	c.4522C>T	c.(4522-4524)Cct>Tct	p.P1508S	RNF17_ENST00000381921.1_Missense_Mutation_p.P1466S|RNF17_ENST00000339524.3_Missense_Mutation_p.P518S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1508	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAATTTAATCCTTTATCTAT	0.328000													29	45					0	0	0.00127121	0	0
OR4F6	390648	broad.mit.edu	37	15	102346732	102346732	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:102346732C>T	ENST00000328882.4	+	1	831	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGATAAATTCCTTGCCATCT	0.383000													35	72					0	0	0.000409698	0	0
HES1	3280	broad.mit.edu	37	3	193854430	193854430	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:193854430A>T	ENST00000232424.3	+	2	369	c.133A>T	c.(133-135)Aga>Tga	p.R45*		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	45					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TATGGAGAAAAGACGAAGAGC	0.428000													11	16					0	0	0.00185496	0	0
SIRPG	55423	broad.mit.edu	37	20	1638337	1638337	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:1638337G>A	ENST00000303415.3	-	1	88	c.24C>T	c.(22-24)ccC>ccT	p.P8P	SIRPG_ENST00000344103.4_Silent_p.P8P|SIRPG_ENST00000381583.2_Silent_p.P8P|SIRPG_ENST00000216927.4_Silent_p.P8P	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	8					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CAGGAGGATGGGGCCAGGAGG	0.552000													23	63					0	0	0.00047179	0	0
NUPL1	9818	broad.mit.edu	37	13	25889500	25889500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:25889500G>A	ENST00000463407.1	+	6	723	c.580G>A	c.(580-582)Gga>Aga	p.G194R	NUPL1_ENST00000381736.3_Missense_Mutation_p.G194R|NUPL1_ENST00000381718.3_Missense_Mutation_p.G182R|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	194	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G194*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TATAGGACTTGGACAGAATGC	0.378000													94	259					0	0	0.000781405	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881905	15881905	+	RNA	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:15881905C>T	ENST00000587443.2	-	0	992					NR_033864.1																						TCCTGGATGACGGCATCTGTG	0.542000													25	43					0	0	0.000720815	0	0
NEK5	341676	broad.mit.edu	37	13	52646132	52646132	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:52646132C>T	ENST00000355568.4	-	21	2011	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	624							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AATCTCCATGCTCCTTTACAC	0.358000													16	26					0	0	0.000308642	0	0
PRR4	11272	broad.mit.edu	37	12	10999770	10999770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:10999770G>A	ENST00000540107.1	-	3	161	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S	PRR4_ENST00000228811.4_Silent_p.H99H|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Intron			Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	42	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AGAGTTGACGGTGTCCTCGTC	0.557000													73	140					0	0	0.000781405	0	0
COPA	1314	broad.mit.edu	37	1	160260465	160260465	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:160260465G>A	ENST00000241704.7	-	32	3661	c.3432C>T	c.(3430-3432)atC>atT	p.I1144I	COPA_ENST00000368069.3_Silent_p.I1153I	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1144					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCAGACAGGATTTTTCGGG	0.488000													61	176					0	0	0.000781405	0	0
FZD10	11211	broad.mit.edu	37	12	130649206	130649206	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:130649206C>T	ENST00000229030.4	+	1	2203	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	573					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AATATGAGATCCCTGCCCAGT	0.552000													17	19					0	0	0.000958276	0	0
RASSF9	9182	broad.mit.edu	37	12	86198791	86198791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:86198791G>A	ENST00000361228.3	-	2	1365	c.997C>T	c.(997-999)Cac>Tac	p.H333Y		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	333					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATGAGAGTGAATTTTCAAA	0.393000													93	225					0	0	0.000781405	0	0
IL36RN	26525	broad.mit.edu	37	2	113820044	113820044	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:113820044G>T	ENST00000393200.2	+	5	419	c.258G>T	c.(256-258)atG>atT	p.M86I	IL36RN_ENST00000346807.3_Missense_Mutation_p.M86I	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	86						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGAACATCATGGAGCTCTATC	0.627000													4	40					0.00116845	0.00856065	0.00116845	1	0
CYP2A13	1553	broad.mit.edu	37	19	41600879	41600879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:41600879C>T	ENST00000330436.3	+	8	1177	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	393					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGAAGTGTTCCCTATGCTGGG	0.572000													36	79					0	0	0.00111076	0	0
PAK7	57144	broad.mit.edu	37	20	9624913	9624913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:9624913G>A	ENST00000378429.3	-	4	610	c.64C>T	c.(64-66)Cat>Tat	p.H22Y	PAK7_ENST00000378423.1_Missense_Mutation_p.H22Y|PAK7_ENST00000353224.5_Missense_Mutation_p.H22Y	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	22	CRIB.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AACCCAGTATGAACCCTGTGT	0.468000													31	47					0	0	0.000692331	0	0
ADAM28	10863	broad.mit.edu	37	8	24208805	24208805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:24208805G>A	ENST00000397649.3	+	20	2307	c.1405G>A	c.(1405-1407)Ggc>Agc	p.G469S	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000265769.4_Silent_p.K720K|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA			Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	0	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGATGGTAAAGGCTGTTCAAC	0.468000													35	72					0	0	0.00148497	0	0
AFM	173	broad.mit.edu	37	4	74350021	74350021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:74350021G>A	ENST00000226355.3	+	3	277	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	62	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACCTTTGAAGAAATGGAAAA	0.403000													22	23					0	0	0.00188189	0	0
NEIL2	252969	broad.mit.edu	37	8	11629028	11629028	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:11629028G>A	ENST00000284503.6	+	2	671	c.72G>A	c.(70-72)aaG>aaA	p.K24K	NEIL2_ENST00000455213.2_Silent_p.K24K|NEIL2_ENST00000528323.1_Silent_p.K24K|NEIL2_ENST00000403422.3_Intron|NEIL2_ENST00000436750.3_Silent_p.K24K	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	24					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGGTGGTCAAGACAGGGGGCA	0.572000								Base excision repair (BER), DNA glycosylases					10	122					0	0	0.000673444	0	0
ADNP2	22850	broad.mit.edu	37	18	77895150	77895150	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:77895150C>T	ENST00000262198.4	+	4	2309	c.1854C>T	c.(1852-1854)gcC>gcT	p.A618A		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	618					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACACGCTGGCCCCCGTGTCTG	0.597000													13	43					0	0	0.00185496	0	0
TAF1C	9013	broad.mit.edu	37	16	84212771	84212771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:84212771G>A	ENST00000567759.1	-	14	2568	c.2386C>T	c.(2386-2388)Cag>Tag	p.Q796*	TAF1C_ENST00000566732.1_Nonsense_Mutation_p.Q770*|TAF1C_ENST00000570117.1_Nonsense_Mutation_p.Q464*|TAF1C_ENST00000541676.1_Nonsense_Mutation_p.Q703*|TAF1C_ENST00000378541.4_Nonsense_Mutation_p.Q796*|TAF1C_ENST00000341690.6_Nonsense_Mutation_p.Q702*	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	796					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GTCAACTCCTGGGAGGGCGGG	0.662000													9	13					0	0	0.000442599	0	0
AXIN1	8312	broad.mit.edu	37	16	354394	354394	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:354394G>A	ENST00000262320.3	-	5	1535	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	AXIN1_ENST00000354866.3_Silent_p.F388F|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	388	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.E384fs*31(1)|p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTCCTCCGCGAACTTCTGAG	0.667000													11	32					0	0	0.00185496	0	0
SRRM2	23524	broad.mit.edu	37	16	2816697	2816697	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:2816697C>T	ENST00000301740.8	+	11	6717	c.6168C>T	c.(6166-6168)tcC>tcT	p.S2056S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2056	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCTCCAGATCCCGTACTCCAC	0.562000													21	41					0	0	0.00152264	0	0
IGF1	3479	broad.mit.edu	37	12	102813412	102813412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:102813412C>T	ENST00000456098.1	-	3	495	c.277G>A	c.(277-279)Gat>Aat	p.D93N	IGF1_ENST00000392904.1_Missense_Mutation_p.D93N|IGF1_ENST00000337514.6_Missense_Mutation_p.D93N|IGF1_ENST00000307046.8_Missense_Mutation_p.D93N|IGF1_ENST00000424202.2_Missense_Mutation_p.D77N	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	93	A.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CAGCACTCATCCACGATGCCT	0.587000													10	46					0	0	0.000978159	0	0
MYH6	4624	broad.mit.edu	37	14	23865948	23865948	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:23865948G>A	ENST00000405093.3	-	19	2317	c.2247C>T	c.(2245-2247)agC>agT	p.S749S	MYH6_ENST00000356287.3_Silent_p.S749S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	749	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGTCCAGAGAGCTGAGCAGCT	0.557000													37	38					0	0	0.000953801	0	0
COL26A1	136227	broad.mit.edu	37	7	101063375	101063375	+	RNA	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:101063375C>T	ENST00000313669.7	+	0	468				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		GCGCCAACCTCGTAAGGTAAA	0.657000													21	38					0	0	0.00152264	0	0
TYW1B	441250	broad.mit.edu	37	7	72178689	72178689	+	RNA	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:72178689G>A	ENST00000438125.1	-	0	873							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTTCTCCCACGAGGGACAATG	0.473000													17	36					0	0	0.000586117	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852056	38852056	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:38852056C>T	ENST00000310803.5	-	2	363	c.186G>A	c.(184-186)ctG>ctA	p.L62L	RASGRP1_ENST00000561180.1_Silent_p.L113L|RASGRP1_ENST00000558164.1_Silent_p.L62L|RASGRP1_ENST00000450598.2_Silent_p.L62L|RASGRP1_ENST00000539159.1_Silent_p.L14L|RASGRP1_ENST00000559830.1_Silent_p.L62L	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	62	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGATCGTCCAGGCTGGCTC	0.498000													12	49					0	0	0.00185496	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812041	110812041	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:110812041T>A	ENST00000455511.3	-	11	1708	c.1708A>T	c.(1708-1710)Atg>Ttg	p.M570L	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTCCCTTCCATGTCGTCCACA	0.612000													5	115					0	0	8.12818e-05	0	0
CR2	1380	broad.mit.edu	37	1	207640229	207640229	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:207640229G>A	ENST00000367057.3	+	2	606	c.417G>A	c.(415-417)ggG>ggA	p.G139G	CR2_ENST00000458541.2_Silent_p.G139G|CR2_ENST00000367059.3_Silent_p.G139G|CR2_ENST00000367058.3_Silent_p.G139G	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	139	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATATGTGGGGGCCGACACGAC	0.473000													23	58					0	0	0.00127121	0	0
NETO1	81832	broad.mit.edu	37	18	70451055	70451055	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:70451055G>A	ENST00000327305.6	-	7	1383	c.726C>T	c.(724-726)tcC>tcT	p.S242S	NETO1_ENST00000299430.2_Silent_p.S241S|NETO1_ENST00000583169.1_Silent_p.S242S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	242	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATCCTCCACGGAACTGCTTC	0.443000													56	77					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9077090	9077090	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:9077090G>A	ENST00000397910.4	-	3	10559	c.10356C>T	c.(10354-10356)atC>atT	p.I3452I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3453	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						CTGTGGAGGTGATGTATAATG	0.483000													24	52					0	0	0.000375601	0	0
TUBB3	10381	broad.mit.edu	37	16	90001226	90001226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:90001226G>T	ENST00000304984.5	+	3	2446	c.151G>T	c.(151-153)Gag>Tag	p.E51*	TUBB3_ENST00000315491.7_Nonsense_Mutation_p.E123*|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Nonsense_Mutation_p.E470*|TUBB3_ENST00000554444.1_Nonsense_Mutation_p.E51*			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	123					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGTGCGGAAGGAGTGTGAAAA	0.652000													18	52					2.4624e-09	1.83403e-08	0.00121646	1	0
CLEC4M	10332	broad.mit.edu	37	19	7831649	7831649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:7831649G>A	ENST00000327325.5	+	5	1010	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CLEC4M_ENST00000334806.5_Missense_Mutation_p.E247K|CLEC4M_ENST00000597522.1_Missense_Mutation_p.E206K|CLEC4M_ENST00000596707.1_Missense_Mutation_p.E231K|CLEC4M_ENST00000596363.1_Missense_Mutation_p.E270K|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E162K|CLEC4M_ENST00000248228.4_Missense_Mutation_p.E276K|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E286K|CLEC4M_ENST00000357361.2_Missense_Mutation_p.E298K|CLEC4M_ENST00000359059.5_Missense_Mutation_p.E231K	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	298	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CGCCTGCCAGGAAGTGAGGGC	0.597000													24	69					0	0	0.000878237	0	0
UNC45B	146862	broad.mit.edu	37	17	33501269	33501269	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:33501269G>A	ENST00000268876.5	+	14	1942	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	UNC45B_ENST00000433649.1_Silent_p.K613K|UNC45B_ENST00000394570.2_Silent_p.K613K|UNC45B_ENST00000378449.1_Silent_p.K534K|UNC45B_ENST00000591048.1_Silent_p.K534K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	615					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGACAAGAAGGACTTTATAG	0.517000													60	137					0	0	0.000781405	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952355	33952355	+	RNA	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:33952355A>G	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CAGCCCCAACAGGAAACTGGG	0.627000													17	10					0	0	0.00121646	0	0
KLC3	147700	broad.mit.edu	37	19	45850770	45850770	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:45850770G>A	ENST00000470402.1	+	3	697	c.597G>A	c.(595-597)agG>agA	p.R199R	KLC3_ENST00000391946.2_Silent_p.R185R|KLC3_ENST00000585434.1_Silent_p.R184R			Q6P597	KLC3_HUMAN	kinesin light chain 3	185						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGGAGGAGAGGAAAGGTGGGT	0.657000													14	49					0	0	0.000219431	0	0
BOC	91653	broad.mit.edu	37	3	112968657	112968657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:112968657G>A	ENST00000495514.1	+	3	712	c.8G>A	c.(7-9)cGt>cAt	p.R3H	BOC_ENST00000355385.3_Missense_Mutation_p.R3H|BOC_ENST00000485230.1_Missense_Mutation_p.R3H|BOC_ENST00000484034.1_Missense_Mutation_p.R3H|BOC_ENST00000273395.4_Missense_Mutation_p.R3H			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	3					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACCATGCTGCGTGGGACGATG	0.557000													24	23					0	0	0.00127121	0	0
FAM210A	125228	broad.mit.edu	37	18	13681927	13681927	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:13681927G>A	ENST00000322247.3	-	3	537	c.150C>T	c.(148-150)ggC>ggT	p.G50G	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Silent_p.G50G	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	50						integral to membrane											GTTTTTGAGGGCCTTGTACCA	0.453000													23	124					0	0	0.00188189	0	0
ALG10	84920	broad.mit.edu	37	12	34179674	34179674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:34179674C>T	ENST00000266483.2	+	3	1565	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.348000													69	156					0	0	0.000781405	0	0
C7	730	broad.mit.edu	37	5	40981538	40981538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:40981538G>A	ENST00000313164.9	+	18	2754	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	799	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGAGTGCGAGGAAGAAGGGTT	0.522000													6	15					0	0	0.00116845	0	0
GABRB2	2561	broad.mit.edu	37	5	160758087	160758087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:160758087C>T	ENST00000274547.2	-	9	1097	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GABRB2_ENST00000517547.1_Missense_Mutation_p.E134K|GABRB2_ENST00000393959.1_Missense_Mutation_p.E294K|GABRB2_ENST00000520240.1_Missense_Mutation_p.E294K|GABRB2_ENST00000353437.6_Missense_Mutation_p.E294K|GABRB2_ENST00000517901.1_Missense_Mutation_p.E231K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	294					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGAGAGTTTCCCGGAGGTGG	0.433000													32	81					0	0	0.000409698	0	0
GDAP1	54332	broad.mit.edu	37	8	75276228	75276228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:75276228C>T	ENST00000220822.7	+	6	783	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	GDAP1_ENST00000434412.2_Nonsense_Mutation_p.Q167*|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	235	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			AGAAGAGGGCCAGCAACCTTG	0.512000													14	31					0	0	0.00185496	0	0
ADAM7	8756	broad.mit.edu	37	8	24324332	24324332	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:24324332A>G	ENST00000175238.6	+	6	493	c.410A>G	c.(409-411)gAc>gGc	p.D137G	ADAM7_ENST00000441335.2_Missense_Mutation_p.D137G|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D137G|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	137					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAATAAACGACCAAAGATAC	0.373000													15	79					0	0	0.000219431	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138132	64138132	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:64138132C>T	ENST00000528057.1	+	16	2122	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	RPS6KA4_ENST00000294261.4_Silent_p.L437L|RPS6KA4_ENST00000334205.4_Silent_p.L685L	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	685					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CGCCCCCGCTCCGGACGCCCG	0.711000													8	8					0	0	0.000157383	0	0
LRRC15	131578	broad.mit.edu	37	3	194081290	194081290	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:194081290C>T	ENST00000347624.3	-	2	568	c.483G>A	c.(481-483)ctG>ctA	p.L161L	LRRC15_ENST00000428839.1_Silent_p.L167L|LRRC15_ENST00000439944.2_Silent_p.L167L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	161						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGATGTATTCCAGGTGGTTGC	0.572000													81	72					0	0	0.000781405	0	0
CEP128	145508	broad.mit.edu	37	14	81296550	81296550	+	Silent	SNP	T	T	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:81296550T>C	ENST00000216517.6	-	14	1564	c.1287A>G	c.(1285-1287)ttA>ttG	p.L429L	CEP128_ENST00000555265.1_Intron|CEP128_ENST00000281129.3_Intron			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	0						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GAGGGCTTTGTAAAGAGTATG	0.294000													4	6					0	0	0.000602214	0	0
BBS1	582	broad.mit.edu	37	11	66287153	66287153	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:66287153G>A	ENST00000419755.3	+	8	846	c.768G>A	c.(766-768)ctG>ctA	p.L256L	BBS1_ENST00000455748.2_Intron|BBS1_ENST00000318312.7_Silent_p.L219L|BBS1_ENST00000393994.2_Silent_p.L219L|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000537537.1_Silent_p.L107L																							TGTCTTGCCTGGTGCTGGGCA	0.597000													14	56					0	0	0.000422831	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6977279	6977279	+	RNA	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:6977279G>A	ENST00000600751.1	-	0	676					NR_024075.1																						TCCTTTTAAAGCATCAGCACA	0.383000													29	76					0	0	0.00106085	0	0
ZNF711	7552	broad.mit.edu	37	X	84526007	84526007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:84526007G>A	ENST00000360700.4	+	10	2483	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	ZNF711_ENST00000276123.3_Missense_Mutation_p.E487K|ZNF711_ENST00000395402.1_Missense_Mutation_p.E495K|ZNF711_ENST00000373165.3_Missense_Mutation_p.E487K|ZNF711_ENST00000542798.1_Missense_Mutation_p.E329K			Q9Y462	ZN711_HUMAN	zinc finger protein 711	487					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGAAACTGCAGAACAAGGACT	0.418000													6	3					0	0	0.00116845	0	0
NMUR2	56923	broad.mit.edu	37	5	151784666	151784666	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:151784666C>T	ENST00000255262.3	-	1	174	c.9G>A	c.(7-9)ggG>ggA	p.G3G	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	3					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTTTTTCCATCCCTGACATTA	0.433000													26	89					0	0	0.000586117	0	0
DNAH7	56171	broad.mit.edu	37	2	196681592	196681592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:196681592G>A	ENST00000312428.6	-	51	9621	c.9521C>T	c.(9520-9522)tCc>tTc	p.S3174F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3174	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCCTTGGAGGAAGATAATAT	0.403000													15	84					0	0	0.000308642	0	0
ENGASE	64772	broad.mit.edu	37	17	77081744	77081744	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:77081744C>T	ENST00000579016.1	+	13	1743	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	581						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGCTAGACCTCCTCGTTTGCT	0.657000													15	47					0	0	0.00152264	0	0
GPC5	2262	broad.mit.edu	37	13	92345703	92345703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:92345703G>A	ENST00000377067.3	+	3	960	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	196						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCATCCGGATGGCTCGCCGGG	0.498000													13	72					0	0	0.00136819	0	0
COL3A1	1281	broad.mit.edu	37	2	189864605	189864605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:189864605G>A	ENST00000304636.3	+	32	2437	c.2267G>A	c.(2266-2268)gGg>gAg	p.G756E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G756E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	756	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G756E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTGTCCCAGGGAAAGATGGC	0.448000													4	22					0	0	0.000602214	0	0
MFSD12	126321	broad.mit.edu	37	19	3544870	3544870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:3544870C>T	ENST00000355415.2	-	9	1526	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	MFSD12_ENST00000389395.3_Missense_Mutation_p.V453M|MFSD12_ENST00000398558.4_Missense_Mutation_p.V453M|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	453					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCCACGCCCACGCCGCCCGTC	0.687000											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					0	0	0.000673444	0	0
MICAL2	9645	broad.mit.edu	37	11	12231070	12231070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:12231070C>T	ENST00000256194.4	+	6	904	c.616C>T	c.(616-618)Cct>Tct	p.P206S	MICAL2_ENST00000527546.1_Missense_Mutation_p.P206S|MICAL2_ENST00000537344.1_Missense_Mutation_p.P206S|MICAL2_ENST00000342902.5_Missense_Mutation_p.P206S|MICAL2_ENST00000379612.3_Missense_Mutation_p.P206S	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	206						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGAATTTCTCCCTACAGACCA	0.517000													57	80					0	0	0.000781405	0	0
MICAL2	9645	broad.mit.edu	37	11	12231069	12231069	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:12231069C>T	ENST00000256194.4	+	6	903	c.615C>T	c.(613-615)ctC>ctT	p.L205L	MICAL2_ENST00000527546.1_Silent_p.L205L|MICAL2_ENST00000537344.1_Silent_p.L205L|MICAL2_ENST00000342902.5_Silent_p.L205L|MICAL2_ENST00000379612.3_Silent_p.L205L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	205						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGAATTTCTCCCTACAGACC	0.517000													57	80					0	0	0.000781405	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854780	21854780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:21854780G>A	ENST00000415645.2	-	4	511	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.R158C					nuclear pore complex interacting protein family, member B4																		TTCCTCTTACGGATTTTAGCT	0.388000													23	145					0	0	0.00178596	0	0
SLC26A7	115111	broad.mit.edu	37	8	92330577	92330577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:92330577C>T	ENST00000276609.3	+	5	850	c.611C>T	c.(610-612)cCa>cTa	p.P204L	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P204L|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P204L	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	204						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATGAAAATGCCATATATATCC	0.398000													31	105					0	0	0.00058488	0	0
CDH7	1005	broad.mit.edu	37	18	63489479	63489479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:63489479C>T	ENST00000536984.2	+	5	1482	c.788C>T	c.(787-789)cCt>cTt	p.P263L	CDH7_ENST00000323011.3_Missense_Mutation_p.P263L|CDH7_ENST00000397968.2_Missense_Mutation_p.P263L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	263	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCTCGCTTTCCTCGAAGTAAG	0.363000													20	21					0	0	0.00188189	0	0
OR5R1	219479	broad.mit.edu	37	11	56185523	56185523	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:56185523G>A	ENST00000312253.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGTGGCTGAGGAAATAGTACA	0.428000													10	38					0	0	0.000978159	0	0
DNAH17	8632	broad.mit.edu	37	17	76570995	76570995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:76570995C>T	ENST00000389840.5	-	2	269	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V49I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCACCTGGACGTCGGGCTTT	0.567000													11	37					0	0	0.000978159	0	0
LRP5	4041	broad.mit.edu	37	11	68115510	68115510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:68115510G>A	ENST00000294304.7	+	2	393	c.287G>A	c.(286-288)gGg>gAg	p.G96E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	96	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACCAGACGGGGGCCGCCGTG	0.637000													23	107					0	0	0.00047179	0	0
DOK7	285489	broad.mit.edu	37	4	3495069	3495069	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:3495069G>A	ENST00000340083.5	+	7	1421	c.1356G>A	c.(1354-1356)cgG>cgA	p.R452R	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Silent_p.R452R|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	452					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGAGACGGCGGGGCCTGGTGA	0.776000													7	6					0	0	0.000157383	0	0
ALPK2	115701	broad.mit.edu	37	18	56204595	56204595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:56204595C>T	ENST00000361673.3	-	5	3037	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	942			E -> K (in an ovarian undifferentiated carcinoma sample; somatic mutation).				ATP binding|protein serine/threonine kinase activity	p.E308K(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCTGTGTTTCATCAAGCCCT	0.527000													22	33					0	0	0.00188189	0	0
AXL	558	broad.mit.edu	37	19	41754431	41754431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:41754431G>A	ENST00000301178.4	+	13	1740	c.1550G>A	c.(1549-1551)gGc>gAc	p.G517D	AXL_ENST00000593513.1_Missense_Mutation_p.G249D|AXL_ENST00000359092.3_Missense_Mutation_p.G508D	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	517						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AACAGCCTGGGCATCAGTGAA	0.582000													24	39					0	0	0.000339439	0	0
NMUR2	56923	broad.mit.edu	37	5	151784667	151784667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:151784667C>T	ENST00000255262.3	-	1	173	c.8G>A	c.(7-9)gGg>gAg	p.G3E	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	3					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TTTTTCCATCCCTGACATTAA	0.433000													26	90					0	0	0.000586117	0	0
TMEM97	27346	broad.mit.edu	37	17	26652620	26652620	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:26652620A>G	ENST00000226230.6	+	2	363	c.218A>G	c.(217-219)gAg>gGg	p.E73G	TMEM97_ENST00000583381.1_5'UTR|TMEM97_ENST00000336687.6_5'UTR|TMEM97_ENST00000582113.1_Missense_Mutation_p.E73G	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	73					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTGTTTTGCGAGCTTGTGTTT	0.453000													43	81					0	0	0.000437636	0	0
GALNT13	114805	broad.mit.edu	37	2	155307048	155307048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:155307048G>A	ENST00000392825.3	+	13	2223	c.1656G>A	c.(1654-1656)atG>atA	p.M552I	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	552						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAAGGAACATGACCTTGGGCA	0.423000													11	36					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179647015	179647015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:179647015C>T	ENST00000589042.1	-	20	3528	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	TTN_ENST00000460472.2_Missense_Mutation_p.G1056R|TTN_ENST00000359218.5_Missense_Mutation_p.G1056R|TTN_ENST00000342992.6_Missense_Mutation_p.G1102R|TTN_ENST00000360870.5_Missense_Mutation_p.G1102R|TTN_ENST00000591111.1_Missense_Mutation_p.G1102R|TTN_ENST00000342175.6_Missense_Mutation_p.G1056R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1102	Ig-like 4.						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)			ACTTGGCATCCAAACACCACG	0.498000													38	50					0	0	0.000953801	0	0
MYPOP	339344	broad.mit.edu	37	19	46393958	46393958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:46393958G>A	ENST00000322217.5	-	3	1209	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	375	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAGTCGTGCGGAGGGAGCGGG	0.647000													10	15					0	0	0.000442599	0	0
LIMK2	3985	broad.mit.edu	37	22	31662019	31662019	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr22:31662019C>T	ENST00000331728.4	+	8	1056	c.942C>T	c.(940-942)tcC>tcT	p.S314S	LIMK2_ENST00000333611.4_Silent_p.S293S|LIMK2_ENST00000444929.2_Silent_p.S68S|LIMK2_ENST00000406516.1_Silent_p.S236S|LIMK2_ENST00000340552.4_Silent_p.S293S	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	314						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCTCAGAATCCCTTCGTTGTT	0.577000													38	105					0	0	0.00111076	0	0
SNTG1	54212	broad.mit.edu	37	8	51571223	51571223	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:51571223G>A	ENST00000522124.1	+	15	1699	c.1038_splice	c.e15+1	p.K346_splice	SNTG1_ENST00000276467.5_Splice_Site_p.K346_splice|SNTG1_ENST00000518864.1_Splice_Site_p.K346_splice|SNTG1_ENST00000517473.1_Splice_Site_p.K346_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATCCTCAAGGTATGATCAA	0.373000													18	39					0	0	0.00074312	0	0
ME1	4199	broad.mit.edu	37	6	83933597	83933597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:83933597C>T	ENST00000369705.3	-	12	1447	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	ME1_ENST00000543031.1_Missense_Mutation_p.G369E|ME1_ENST00000541327.1_Missense_Mutation_p.G278E	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	444				NGQTLY -> DGRTLF (in Ref. 2; AAB01380).	carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TAGGGTCTGTCCATTTGGAAG	0.438000													4	23					0	0	0.00024832	0	0
DNAH5	1767	broad.mit.edu	37	5	13727715	13727715	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:13727715C>T	ENST00000265104.4	-	70	12038	c.11934G>A	c.(11932-11934)ccG>ccA	p.P3978P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3978					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCCTCCTCCGGGTTTTCCT	0.423000									Kartagener syndrome				17	29					0	0	0.00074312	0	0
TFCP2	7024	broad.mit.edu	37	12	51492621	51492621	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:51492621A>G	ENST00000307660.4	-	12	1924	c.1204T>C	c.(1204-1206)Tgc>Cgc	p.C402R	TFCP2_ENST00000548115.1_Missense_Mutation_p.C402R|TFCP2_ENST00000257915.5_Missense_Mutation_p.C453R|TFCP2_ENST00000549867.1_Missense_Mutation_p.C375R	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	453	Gln-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CTGATCTGGCAAGGGGAAATG	0.408000													21	46					0	0	0.000375601	0	0
TRPC4	7223	broad.mit.edu	37	13	38211377	38211377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:38211377G>A	ENST00000379705.3	-	11	3454	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.S693F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S871F|TRPC4_ENST00000338947.5_Missense_Mutation_p.S693F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	866	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCTGAAACAGAGAAGATTTG	0.408000													20	53					0	0	0.00188189	0	0
ZNF347	84671	broad.mit.edu	37	19	53644084	53644084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:53644084G>A	ENST00000452676.2	-	5	2426	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.S666L|ZNF347_ENST00000601469.2_Missense_Mutation_p.S667L	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGCAAGGTGTGAATTCTGAGT	0.418000													38	88					0	0	0.00195071	0	0
C17orf70	80233	broad.mit.edu	37	17	79517916	79517916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:79517916G>A	ENST00000537152.1	-	3	676	c.151C>T	c.(151-153)Cca>Tca	p.P51S	C17orf70_ENST00000327787.8_Missense_Mutation_p.P202S	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	202					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAGCCTGATGGTGACACAGAG	0.672000													9	20					0	0	0.000442599	0	0
PCED1B	91523	broad.mit.edu	37	12	47629822	47629822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:47629822C>T	ENST00000546455.1	+	4	1707	c.976C>T	c.(976-978)Cat>Tat	p.H326Y	PCED1B_ENST00000432328.1_Missense_Mutation_p.H326Y					PC-esterase domain containing 1B																		tcccATTCTCCATCACCAGGG	0.592000													45	95					0	0	0.000781405	0	0
SMYD5	10322	broad.mit.edu	37	2	73449886	73449886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:73449886C>T	ENST00000389501.4	+	7	691	c.646C>T	c.(646-648)Caa>Taa	p.Q216*		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	216							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AATCCAGGGCCAACTGGAACT	0.577000													15	11					0	0	0.000566183	0	0
KIAA1244	57221	broad.mit.edu	37	6	138607931	138607931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:138607931C>T	ENST00000251691.4	+	16	2829	c.2663C>T	c.(2662-2664)tCc>tTc	p.S888F		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	888					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)		GCGGGGAGCTCCAAAGGGCTG	0.567000													48	52					0	0	0.000781405	0	0
IL19	29949	broad.mit.edu	37	1	207010336	207010336	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:207010336C>T	ENST00000270218.6	+	4	1117	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	IL19_ENST00000340758.2_Silent_p.L98L	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	60					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TGTCACTATCCTGTCCACATT	0.428000													42	79					0	0	0.000781405	0	0
ZFP64	55734	broad.mit.edu	37	20	50705006	50705006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:50705006G>A	ENST00000361387.2	-	8	1213	c.1153C>T	c.(1153-1155)Ccg>Tcg	p.P385S	ZFP64_ENST00000371518.2_Missense_Mutation_p.P385S|ZFP64_ENST00000371523.4_Missense_Mutation_p.P166S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CATTTGTACGGCCGCTCATCA	0.597000													43	105					0	0	0.000509022	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467791	35467791	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr21:35467791C>T	ENST00000381151.3	+	2	806	c.294C>T	c.(292-294)atC>atT	p.I98I	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	98						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGGTTTTCATCCCAATTTACA	0.478000													279	232					0	0	0.000781405	0	0
LHX4	89884	broad.mit.edu	37	1	180217561	180217561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:180217561G>A	ENST00000263726.2	+	2	462	c.218G>A	c.(217-219)gGg>gAg	p.G73E		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	73	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TCCAGGGCTGGGAGCGTCTAC	0.587000													27	58					0	0	0.000720815	0	0
FCRL5	83416	broad.mit.edu	37	1	157516848	157516848	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:157516848T>G	ENST00000361835.3	-	3	349	c.192A>C	c.(190-192)aaA>aaC	p.K64N	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368189.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368188.2_Missense_Mutation_p.K64N|FCRL5_ENST00000356953.4_Missense_Mutation_p.K64N	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	64	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTAGTATTTCTTTCCCAAGGT	0.502000													5	100					0	0	0.000602214	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433233	104433233	+	Silent	SNP	T	T	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr9:104433233T>C	ENST00000361820.3	-	3	2061	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	487			G -> R (in dbSNP:rs10989589).		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGACAATCTTTCCCCCCTGCC	0.502000													7	161					0	0	0.000157383	0	0
TAF7L	54457	broad.mit.edu	37	X	100532669	100532669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:100532669C>T	ENST00000372907.3	-	9	885	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	TAF7L_ENST00000356784.1_Missense_Mutation_p.E206K|TAF7L_ENST00000324762.6_Missense_Mutation_p.E206K|TAF7L_ENST00000372905.2_Missense_Mutation_p.E206K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	292					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCTTGACTTTCTATTTCCTTG	0.463000													38	30					0	0	0.00148497	0	0
SELP	6403	broad.mit.edu	37	1	169588454	169588454	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:169588454T>G	ENST00000263686.6	-	2	44	c.7A>C	c.(7-9)Aac>Cac	p.N3H	SELP_ENST00000367791.2_Missense_Mutation_p.N3H|SELP_ENST00000458599.2_Missense_Mutation_p.N3H|SELP_ENST00000367793.2_Missense_Mutation_p.N3H|SELP_ENST00000367794.2_Missense_Mutation_p.N3H|SELP_ENST00000367792.2_Missense_Mutation_p.N3H|SELP_ENST00000367786.2_Missense_Mutation_p.N3H|SELP_ENST00000367788.2_Missense_Mutation_p.N3H	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	3					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTTGGCAGTTGGCCTGAAAC	0.383000													6	89					0	0	0.00116845	0	0
RBM7	10179	broad.mit.edu	37	11	114272447	114272447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:114272447C>T	ENST00000541475.1	+	2	189	c.124C>T	c.(124-126)Cca>Tca	p.P42S	RBM7_ENST00000375490.5_Missense_Mutation_p.P42S|RBM7_ENST00000540163.1_Missense_Mutation_p.P42S|RP11-212D19.4_ENST00000544347.1_Silent_p.F38F|RBM7_ENST00000544582.1_Missense_Mutation_p.P42S|RBM7_ENST00000545678.1_Intron			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	42	RRM.				meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGTGAAAATTCCAAAAGATAA	0.313000													7	17					0	0	0.000157383	0	0
CERKL	375298	broad.mit.edu	37	2	182413290	182413290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:182413290G>A	ENST00000410087.3	-	8	1215	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	CERKL_ENST00000339098.5_Missense_Mutation_p.S398F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.S354F|CERKL_ENST00000374969.2_Missense_Mutation_p.S259F|CERKL_ENST00000374970.2_Missense_Mutation_p.S303F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	398					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CACATCATCAGAGCTGTTAAA	0.313000													14	20					0	0	0.000422831	0	0
CDK17	5128	broad.mit.edu	37	12	96691070	96691070	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:96691070A>G	ENST00000261211.3	-	9	1454	c.851T>C	c.(850-852)aTc>aCc	p.I284T	CDK17_ENST00000542666.1_Missense_Mutation_p.I231T|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000543119.2_Missense_Mutation_p.I284T	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	284	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CATACTCATGATGTTTCCACA	0.363000													6	24					0	0	8.12818e-05	0	0
PIAS2	9063	broad.mit.edu	37	18	44408073	44408073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:44408073G>A	ENST00000585916.1	-	11	1356	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	PIAS2_ENST00000545673.1_Missense_Mutation_p.P163S|PIAS2_ENST00000324794.7_Missense_Mutation_p.P453S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	453					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ACTGAACAAGGCTTACTGAGG	0.383000													12	48					0	0	0.000308642	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603964	140603964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:140603964C>T	ENST00000239449.4	+	1	887	c.887C>T	c.(886-888)cCa>cTa	p.P296L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P143L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		296	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATTAATCCAATATCTGGG	0.368000													15	34					0	0	0.000219431	0	0
PHF20	51230	broad.mit.edu	37	20	34505530	34505530	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:34505530C>T	ENST00000374012.3	+	13	2079	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTATGACTTCGAGGTGGTCC	0.502000													27	49					0	0	0.000878237	0	0
MACROD1	28992	broad.mit.edu	37	11	63766456	63766456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:63766456C>T	ENST00000255681.6	-	9	1010	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	315	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GAGCCGGCTCCGGTAGATGTC	0.731000													5	23					0	0	0.000602214	0	0
ZNF582	147948	broad.mit.edu	37	19	56896336	56896336	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:56896336G>A	ENST00000301310.4	-	5	608	c.450C>T	c.(448-450)ccC>ccT	p.P150P	ZNF582_ENST00000586929.1_Silent_p.P150P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGTCAAAAGTGGGCATTTCTT	0.378000													44	90					0	0	0.000509022	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309074	61309074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:61309074C>T	ENST00000341074.5	-	4	386	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E91K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTGTTGAATTCAGTCAGAAGC	0.383000													19	98					0	0	0.00188189	0	0
PDE1C	5137	broad.mit.edu	37	7	31855585	31855585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:31855585C>T	ENST00000396184.3	-	16	1970	c.1766G>A	c.(1765-1767)gGg>gAg	p.G589E	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.G649E|PDE1C_ENST00000321453.7_Missense_Mutation_p.G589E|PDE1C_ENST00000396182.2_Missense_Mutation_p.G589E|PDE1C_ENST00000396191.1_Missense_Mutation_p.G589E	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	589					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GGAGTTTTTCCCACGAGGGTT	0.458000													70	189					0	0	0.000781405	0	0
CCR3	1232	broad.mit.edu	37	3	46306898	46306898	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:46306898C>T	ENST00000357422.2	+	4	792	c.249C>T	c.(247-249)ttC>ttT	p.F83F	CCR3_ENST00000395940.2_Silent_p.F83F|CCR3_ENST00000545097.1_Silent_p.F104F|CCR3_ENST00000541018.1_Silent_p.F83F|CCR3_ENST00000395942.2_Silent_p.F83F			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	83					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACCTGCTCTTCCTCGTCACCC	0.502000													80	76					0	0	0.000781405	0	0
CUX1	1523	broad.mit.edu	37	7	101840359	101840359	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:101840359C>T	ENST00000360264.3	+	15	1721	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.I556I|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Silent_p.I454I|CUX1_ENST00000550008.2_Silent_p.I556I|CUX1_ENST00000549414.2_Silent_p.I556I|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.I454I	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	556					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTGCAGAAATCGCCCGGCAGG	0.537000													58	138					0	0	0.000781405	0	0
TRIM10	10107	broad.mit.edu	37	6	30126183	30126183	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:30126183A>G	ENST00000449742.2	-	3	824	c.749T>C	c.(748-750)cTc>cCc	p.L250P	TRIM10_ENST00000376704.3_Missense_Mutation_p.L250P	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	250						cytoplasm	zinc ion binding			ovary(1)	1						CACCGTCAGGAGCTCCCTTGC	0.532000													61	75					0	0	0.000781405	0	0
SLIT3	6586	broad.mit.edu	37	5	168123404	168123404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:168123404C>T	ENST00000519560.1	-	28	3394	c.2975G>A	c.(2974-2976)cGg>cAg	p.R992Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R999Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R992Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	992	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R992Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCTCACACCGCTGCCCCTC	0.587000													10	43					0	0	0.000673444	0	0
FYB	2533	broad.mit.edu	37	5	39202529	39202529	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:39202529C>T	ENST00000351578.6	-	2	724	c.534G>A	c.(532-534)ggG>ggA	p.G178G	FYB_ENST00000540520.1_Silent_p.G188G|FYB_ENST00000515010.1_Silent_p.G178G|FYB_ENST00000512982.1_Silent_p.G178G|FYB_ENST00000505428.1_Silent_p.G178G	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	178					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACATAAATTTCCCTTTAACCC	0.502000													27	80					0	0	0.00127121	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376073	376073	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:376073G>A	ENST00000329962.6	+	12	1095		c.e12-1			NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4							Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCCCCCAGGTGTACCTGT	0.667000													6	20					0	0	0.00116845	0	0
ZZEF1	23140	broad.mit.edu	37	17	4020382	4020382	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:4020382T>C	ENST00000381638.2	-	3	702	c.578A>G	c.(577-579)aAt>aGt	p.N193S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	193							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGAGAGCCGATTGCGGTGCAG	0.507000													51	117					0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526486	173526486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:173526486G>A	ENST00000367714.3	-	10	1630	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L	SLC9C2_ENST00000536496.1_Missense_Mutation_p.P301L|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	403					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TACCATTTGTGGTACTTCCAC	0.373000													43	130					0	0	0.00195071	0	0
ATP10D	57205	broad.mit.edu	37	4	47514627	47514627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:47514627G>A	ENST00000273859.3	+	2	339	c.70G>A	c.(70-72)Gat>Aat	p.D24N	ATP10D_ENST00000504445.1_Missense_Mutation_p.D24N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	24					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGGGATGATGATTCAGGGCC	0.527000													11	68					0	0	0.000978159	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785738	11785738	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:11785738G>A	ENST00000356957.3	-	9	1496	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	TXNDC11_ENST00000283033.5_Silent_p.S436S			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	463					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGTGGGTCCTGGAGAAGGAGT	0.622000													16	53					0	0	0.000566183	0	0
BEST3	144453	broad.mit.edu	37	12	70049472	70049472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:70049472G>A	ENST00000330891.5	-	10	1448	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.P302S|BEST3_ENST00000488961.1_Missense_Mutation_p.P195S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	408						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTTCTGGGGCTGGAGGGG	0.557000													54	109					0	0	0.000781405	0	0
TXNRD2	10587	broad.mit.edu	37	22	19906448	19906448	+	Silent	SNP	C	C	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr22:19906448C>A	ENST00000535882.1	-	4	305	c.306G>T	c.(304-306)ctG>ctT	p.L102L	TXNRD2_ENST00000400521.1_Silent_p.L103L|TXNRD2_ENST00000334363.9_Silent_p.L103L|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Silent_p.L102L|TXNRD2_ENST00000400525.1_Silent_p.L80L|TXNRD2_ENST00000542719.1_Silent_p.L73L|TXNRD2_ENST00000400518.1_Silent_p.L73L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	103					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCAGGCCTCCCAGCAGTGCCG	0.652000													6	88					0.00116845	0.00856065	0.00116845	1	0
PARP14	54625	broad.mit.edu	37	3	122404049	122404049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:122404049G>A	ENST00000474629.2	+	2	471	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAAGGTTCTGGAGAGAAAAAA	0.393000													27	22					0	0	0.00106085	0	0
SCN7A	6332	broad.mit.edu	37	2	167304175	167304175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:167304175G>A	ENST00000409855.1	-	11	1460	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	445					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGTCTGTGGAAATTGGTGA	0.383000													48	62					0	0	0.000781405	0	0
PIGL	9487	broad.mit.edu	37	17	16120579	16120579	+	Silent	SNP	C	C	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:16120579C>G	ENST00000225609.5	+	1	56	c.39C>G	c.(37-39)gtC>gtG	p.V13V	PIGL_ENST00000581006.1_Silent_p.V13V|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000395844.3_Silent_p.V13V|PIGL_ENST00000498772.2_Silent_p.V13V	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	13					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		CGTTGGCGGTCTTGGCATGGG	0.612000													17	59					0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179588785	179588785	+	Silent	SNP	T	T	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:179588785T>C	ENST00000589042.1	-	73	21425	c.21201A>G	c.(21199-21201)gtA>gtG	p.V7067V	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V5823V|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Silent_p.V6750V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6750	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATCCAGCTACTTTGCATT	0.443000													29	27					0	0	0.00106085	0	0
DUSP27	92235	broad.mit.edu	37	1	167095025	167095025	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:167095025G>A	ENST00000361200.2	+	6	823	c.655_splice	c.e6-1	p.G219_splice	DUSP27_ENST00000271385.5_Splice_Site_p.G219_splice|DUSP27_ENST00000443333.1_Splice_Site_p.G219_splice			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	219	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCATTTCAGGGAAAGTCCTGG	0.453000													15	25					0	0	0.000219431	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042101	75042101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:75042101C>T	ENST00000343932.4	+	2	85	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	8					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCAGTCTGTTCCCTTCTCGGC	0.537000													88	214					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	51					0	0	0.00106085	0	0
CYP4F3	4051	broad.mit.edu	37	19	15754856	15754856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:15754856C>T	ENST00000591058.1	+	3	385	c.338C>T	c.(337-339)gCc>gTc	p.A113V	CYP4F3_ENST00000586182.1_Missense_Mutation_p.A113V|CYP4F3_ENST00000221307.7_Intron|CYP4F3_ENST00000585846.1_Missense_Mutation_p.A113V	NM_001199208.1|NM_001199209.1	NP_001186137.1|NP_001186138.1	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	113					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GTCATCAACGCCTCAGGTACC	0.582000													9	42					0	0	0.000673444	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:19995558G>A	ENST00000391403.2	-	1	2320	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000													11	13					0	0	0.000978159	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784510	15784510	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:15784510G>A	ENST00000550308.1	+	2	551	c.171G>A	c.(169-171)cgG>cgA	p.R57R	CYP4F12_ENST00000324632.9_Silent_p.R57R	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCCAAAACGGAACTGGTTTT	0.587000													41	91					0	0	0.000509022	0	0
PRTG	283659	broad.mit.edu	37	15	55919241	55919241	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:55919241G>A	ENST00000389286.4	-	17	2939	c.2892C>T	c.(2890-2892)atC>atT	p.I964I		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	964					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGAGAACACAGATGAGGATGC	0.408000													18	41					0	0	0.00074312	0	0
FMO1	2326	broad.mit.edu	37	1	171251294	171251294	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:171251294C>T	ENST00000354841.4	+	6	1136	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FMO1_ENST00000402921.2_Silent_p.F272F|FMO1_ENST00000367750.3_Silent_p.F335F|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	335					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTGCTTTCCCCTTCCTTG	0.418000													39	69					0	0	0.00148497	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673876	20673876	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:20673876C>T	ENST00000525748.1	+	15	2385	c.2112C>T	c.(2110-2112)acC>acT	p.T704T	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	704					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCCCATGACCTATGGCTCTT	0.468000													55	65					0	0	0.000781405	0	0
ZHX1	11244	broad.mit.edu	37	8	124266335	124266335	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:124266335C>G	ENST00000395571.3	-	3	2469	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E618Q|ZHX1_ENST00000297857.2_Missense_Mutation_p.E618Q	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	618					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCTTCTTCTCTGTAAACCAA	0.373000													18	75					0	0	0.00152264	0	0
PHF3	23469	broad.mit.edu	37	6	64408495	64408495	+	Splice_Site	SNP	T	T	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:64408495T>A	ENST00000262043.3	+	8	3322	c.2982_splice	c.e8+1	p.N994_splice	PHF3_ENST00000393387.1_Splice_Site_p.N994_splice			Q92576	PHF3_HUMAN	PHD finger protein 3	994	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTAAAAACAATGTAAGTATGC	0.289000													11	37					0	0	0.000978159	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589663	140589663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:140589663C>T	ENST00000239450.2	+	1	1373	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S58F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		395	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTAAAATCTTCGGTAAAT	0.488000													9	30					0	0	0.000673444	0	0
KCNB2	9312	broad.mit.edu	37	8	73849017	73849017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:73849017C>T	ENST00000523207.1	+	3	2015	c.1427C>T	c.(1426-1428)gCc>gTc	p.A476V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	476					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGAGTCCGCCAACACAAAG	0.522000													38	121					0	0	0.00148497	0	0
SERPING1	710	broad.mit.edu	37	11	57373518	57373518	+	Missense_Mutation	SNP	C	C	T	rs145436911		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:57373518C>T	ENST00000403558.1	+	4	1189	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SERPING1_ENST00000531605.1_3'UTR|SERPING1_ENST00000278407.4_Missense_Mutation_p.R241W|SERPING1_ENST00000378324.2_Missense_Mutation_p.R189W|SERPING1_ENST00000340687.6_Missense_Mutation_p.R241W|SERPING1_ENST00000378323.4_Missense_Mutation_p.R246W	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	241					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GAATGCCTCTCGGACCCTGTA	0.527000													20	100					0	0	0.000958276	0	0
OR6V1	346517	broad.mit.edu	37	7	142749478	142749478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:142749478G>A	ENST00000418316.1	+	1	62	c.41G>A	c.(40-42)gGc>gAc	p.G14D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GTCCTCTTGGGCTTCTCCTCC	0.512000													46	129					0	0	0.000781405	0	0
AQP11	282679	broad.mit.edu	37	11	77301464	77301464	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:77301464C>T	ENST00000313578.3	+	1	785	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	143						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GAGCTTGGGTCTGACCCAGTA	0.597000													23	38					0	0	0.000375601	0	0
PSD2	84249	broad.mit.edu	37	5	139193814	139193814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:139193814G>A	ENST00000274710.3	+	4	1086	c.881G>A	c.(880-882)gGg>gAg	p.G294E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	294	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCGGAGGGGTTGGAGCCT	0.632000													25	56					0	0	0.00047179	0	0
GPR112	139378	broad.mit.edu	37	X	135426719	135426719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:135426719C>T	ENST00000394143.1	+	6	1145	c.854C>T	c.(853-855)tCa>tTa	p.S285L	GPR112_ENST00000287534.4_Missense_Mutation_p.S222L|GPR112_ENST00000412101.1_Missense_Mutation_p.S80L|GPR112_ENST00000394141.1_Missense_Mutation_p.S80L|GPR112_ENST00000370652.1_Missense_Mutation_p.S285L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	285					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAACCATATCATATTCCAAT	0.368000													22	26					0	0	0.000295444	0	0
COL22A1	169044	broad.mit.edu	37	8	139611073	139611073	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:139611073G>A	ENST00000303045.6	-	61	4700	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	COL22A1_ENST00000435777.1_Silent_p.I1398I|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1418	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGGCCTGGGATTCCAGGGT	0.592000										HNSCC(7;0.00092)			13	49					0	0	0.000308642	0	0
STAT6	6778	broad.mit.edu	37	12	57492348	57492348	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:57492348A>G	ENST00000300134.3	-	19	2424	c.2099T>C	c.(2098-2100)aTc>aCc	p.I700T	STAT6_ENST00000538913.2_Missense_Mutation_p.I590T|STAT6_ENST00000454075.3_Missense_Mutation_p.I700T|STAT6_ENST00000556155.1_Missense_Mutation_p.I700T|STAT6_ENST00000543873.2_Missense_Mutation_p.I700T|STAT6_ENST00000537215.2_Missense_Mutation_p.I590T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	700					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ATACGGGGGGATGGAGTGAGA	0.547000													4	107					0	0	0.000602214	0	0
LIPE	3991	broad.mit.edu	37	19	42931281	42931281	+	Silent	SNP	T	T	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:42931281T>G	ENST00000244289.4	-	1	297	c.21A>C	c.(19-21)tcA>tcC	p.S7S	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	7					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACCTAGACACTGACTTAGAAC	0.527000													23	50					0	0	0.000375601	0	0
TTC31	64427	broad.mit.edu	37	2	74718709	74718709	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:74718709C>T	ENST00000410003.1	+	8	795	c.786C>T	c.(784-786)ccC>ccT	p.P262P	TTC31_ENST00000233623.5_Silent_p.P262P|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P118P			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	262							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						ACCAGGAGCCCCAAGGCAGGG	0.587000													58	36					0	0	0.000781405	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637997	234637997	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:234637997C>T	ENST00000482026.1	+	1	244	c.225C>T	c.(223-225)ttC>ttT	p.F75F	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGAACTTTTTCACCCTGACAA	0.507000													26	99					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9057123	9057123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:9057123C>T	ENST00000397910.4	-	3	30526	c.30323G>A	c.(30322-30324)gGa>gAa	p.G10108E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10110	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						ACTGGTGGTTCCCACATTGGT	0.478000													38	59					0	0	0.000814825	0	0
BRCA2	675	broad.mit.edu	37	13	32913284	32913284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:32913284C>T	ENST00000544455.1	+	11	5019	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L1598F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1598					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCAGAATTCTCTCAATAATGA	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			33	79					0	0	0.000491102	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376074	376074	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:376074G>A	ENST00000329962.6	+	12	1096	c.1095_splice	c.e12-1	p.V366_splice		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	366						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCCCCCAGGTGTACCTGTC	0.672000													6	21					0	0	0.00116845	0	0
XKR3	150165	broad.mit.edu	37	22	17288961	17288961	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr22:17288961C>T	ENST00000331428.5	-	2	105	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	1						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACACTGTCTCCATTCTCAGGG	0.388000													37	120					0	0	0.00195071	0	0
MYH8	4626	broad.mit.edu	37	17	10317561	10317561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:10317561C>T	ENST00000403437.2	-	11	1050	c.956G>A	c.(955-957)gGg>gAg	p.G319E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	319	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTGATCTCCCCCTGACTGAC	0.393000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				100	240					0	0	0.000781405	0	0
GDAP1	54332	broad.mit.edu	37	8	75276227	75276227	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:75276227C>T	ENST00000220822.7	+	6	782	c.702C>T	c.(700-702)ggC>ggT	p.G234G	GDAP1_ENST00000434412.2_Silent_p.G166G|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	234	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TAGAAGAGGGCCAGCAACCTT	0.507000													14	32					0	0	0.00185496	0	0
COL4A4	1286	broad.mit.edu	37	2	227919421	227919421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:227919421G>A	ENST00000396625.3	-	31	2956	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P917S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	917	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTTCTCCGGGAAAACCTGGG	0.512000													23	24					0	0	0.00047179	0	0
DNAH5	1767	broad.mit.edu	37	5	13911497	13911497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:13911497G>A	ENST00000265104.4	-	12	1746	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	548	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAACCTACATGAAGGTCATTA	0.363000									Kartagener syndrome				14	49					0	0	0.000308642	0	0
KLHL17	339451	broad.mit.edu	37	1	898791	898791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:898791C>T	ENST00000338591.3	+	8	1369	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	421	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGAGGTGTCCATGGGCACA	0.622000													27	16					0	0	0.000878237	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910676	230910676	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:230910676T>C	ENST00000295190.4	-	4	1624	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	389						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAGGGTGAAGTTGGCCAACAG	0.468000													16	23					0	0	0.000566183	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420355	105420355	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:105420355C>A	ENST00000258494.9	-	22	2824	c.2684G>T	c.(2683-2685)gGa>gTa	p.G895V	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	895	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGTTTAACTCCGCCAAATGG	0.393000													30	71					1.7881e-09	1.33735e-08	0.001512	1	0
MORC2	22880	broad.mit.edu	37	22	31330890	31330890	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr22:31330890G>A	ENST00000215862.4	-	20	3248	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	MORC2_ENST00000397641.2_Silent_p.L691L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	691							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCTGCACCAGAGGGGCAGGT	0.587000													65	67					0	0	0.000781405	0	0
OR51M1	390059	broad.mit.edu	37	11	5410796	5410796	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:5410796C>T	ENST00000328611.3	+	1	190	c.168C>T	c.(166-168)ttC>ttT	p.F56F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	56						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAATTGTTTCATTCTGATCA	0.453000													18	119					0	0	0.000566183	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	162					0	0	0.000602214	0	0
PEBP4	157310	broad.mit.edu	37	8	22582371	22582371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:22582371C>T	ENST00000256404.6	-	6	593	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	168						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		GTTTTGTTTTCCTTGGGAAGG	0.537000													13	57					0	0	0.000219431	0	0
CILP2	148113	broad.mit.edu	37	19	19656504	19656504	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:19656504C>T	ENST00000586018.1	+	8	3270	c.3168C>T	c.(3166-3168)gcC>gcT	p.A1056A	CILP2_ENST00000291495.4_Silent_p.A1050A			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1050						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCATGCTGGCCCCCCTAGACC	0.657000													7	18					0	0	8.12818e-05	0	0
DNAH7	56171	broad.mit.edu	37	2	196822000	196822000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:196822000C>T	ENST00000312428.6	-	19	3163	c.3063G>A	c.(3061-3063)atG>atA	p.M1021I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1021	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACACTTCTCATTATATCTC	0.378000													53	50					0	0	0.000781405	0	0
SLC43A1	8501	broad.mit.edu	37	11	57268284	57268284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:57268284C>T	ENST00000278426.3	-	5	788	c.433G>A	c.(433-435)Ggt>Agt	p.G145S	SLC43A1_ENST00000528450.1_Missense_Mutation_p.G145S	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	145					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGATGCCACCAAAGCCATTC	0.592000													14	20					0	0	0.000219431	0	0
RND1	27289	broad.mit.edu	37	12	49255804	49255804	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:49255804G>A	ENST00000309739.5	-	3	436	c.306C>T	c.(304-306)agC>agT	p.S102S		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	102					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TCTTGAGTGCGCTGTCCACTG	0.473000													35	86					0	0	0.000953801	0	0
MMP27	64066	broad.mit.edu	37	11	102567432	102567432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:102567432C>T	ENST00000260229.4	-	5	845	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	252					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCATTGATATCATCCTGAGAA	0.388000													9	27					0	0	0.000442599	0	0
KCNC3	3748	broad.mit.edu	37	19	50826917	50826917	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:50826917G>A	ENST00000376959.2	-	2	1456	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Silent_p.F431F|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	431					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCAGCCCCACGAAGTGCCGGG	0.657000													21	41					0	0	0.00152264	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985004	42985004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:42985004G>A	ENST00000326974.4	+	2	269	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	KLHDC3_ENST00000332245.8_Missense_Mutation_p.R25Q|KLHDC3_ENST00000244670.8_5'UTR	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	25					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCGGGCATCGGGTATACTCC	0.572000													11	119					0	0	0.000673444	0	0
OGDHL	55753	broad.mit.edu	37	10	50966519	50966519	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr10:50966519G>C	ENST00000374103.4	-	2	205	c.120C>G	c.(118-120)ttC>ttG	p.F40L	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.F40L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	40					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGCTGCTTGGGAAGGTGGCCG	0.637000													39	25					0	0	0.00128727	0	0
OR5L1	219437	broad.mit.edu	37	11	55579441	55579441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:55579441C>T	ENST00000333973.2	+	1	588	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTTAGGATCCCCTTCTATAG	0.448000													21	145					0	0	0.000295444	0	0
KANK2	25959	broad.mit.edu	37	19	11285168	11285168	+	Silent	SNP	C	C	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:11285168C>A	ENST00000432929.2	-	9	2433	c.2073G>T	c.(2071-2073)gtG>gtT	p.V691V	KANK2_ENST00000589894.1_Silent_p.V683V|KANK2_ENST00000586659.1_Silent_p.V683V|KANK2_ENST00000355150.5_Silent_p.V683V|KANK2_ENST00000589359.1_Silent_p.V691V	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	683										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAGCTGCTGCACCACGGGGA	0.637000													4	13					0.00024832	0.0018343	0.00024832	1	0
IL23R	149233	broad.mit.edu	37	1	67721573	67721573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:67721573C>T	ENST00000347310.5	+	10	1373	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	IL23R_ENST00000395227.1_Missense_Mutation_p.P146L|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	401					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GAAGATATTCCTAATATGAAA	0.333000													28	25					0	0	0.00127121	0	0
FLNB	2317	broad.mit.edu	37	3	58155360	58155360	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:58155360C>T	ENST00000295956.4	+	45	7626	c.7461C>T	c.(7459-7461)tcC>tcT	p.S2487S	FLNB_ENST00000348383.5_Silent_p.S2446S|FLNB_ENST00000357272.4_3'UTR|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000429972.2_Silent_p.S2476S|FLNB_ENST00000419752.2_Silent_p.S2307S|FLNB_ENST00000358537.3_Silent_p.S2463S|FLNB_ENST00000490882.1_Silent_p.S2518S|FLNB_ENST00000493452.1_Silent_p.S2294S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2487	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).			S -> C (in Ref. 11; AAA35505).	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACCTCATCCATCCTGGTGG	0.587000													57	73					0	0	0.000781405	0	0
IQCH	64799	broad.mit.edu	37	15	67713666	67713666	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:67713666C>T	ENST00000335894.4	+	16	2322	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.V409V|IQCH_ENST00000360277.4_Silent_p.V413V|IQCH_ENST00000358767.3_Silent_p.V488V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	752										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGACAATGTCACCAACCTCA	0.517000													12	45					0	0	0.00136819	0	0
SLC27A1	376497	broad.mit.edu	37	19	17597444	17597444	+	Silent	SNP	C	C	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:17597444C>A	ENST00000252595.7	+	2	337	c.240C>A	c.(238-240)cgC>cgA	p.R80R	SLC27A1_ENST00000442725.1_Silent_p.R80R|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	80					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCATCCCGCGCATCTTTCAGG	0.701000													10	23					3.86212e-05	0.000286467	0.000673444	1	0
F7	2155	broad.mit.edu	37	13	113760179	113760179	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:113760179C>T	ENST00000375581.3	+	1	59	c.24C>T	c.(22-24)ctC>ctT	p.L8L	F7_ENST00000541084.1_Silent_p.L23L|F7_ENST00000346342.3_Silent_p.L8L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	8					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCTCAGGCTCCTCTGCCTTC	0.592000													7	15					0	0	0.000157383	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691861	122691861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:122691861G>A	ENST00000535274.1	+	1	2715	c.988G>A	c.(988-990)Gag>Aag	p.E330K	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.E330K|B3GNT4_ENST00000324189.4_Missense_Mutation_p.E355K			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	355					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CAGCCCCCTCGAGATGTGGAC	0.627000													15	39					0	0	0.000566183	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691317	12691317	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:12691317A>C	ENST00000593682.1	-	1	472	c.473T>G	c.(472-474)aTa>aGa	p.I158R	ZNF490_ENST00000311437.6_Missense_Mutation_p.H524Q																							TCTGTCTACTATGAGTCCTTT	0.398000													50	157					0	0	0.000781405	0	0
MYLK	4638	broad.mit.edu	37	3	123376213	123376213	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:123376213G>T	ENST00000360772.3	-	25	4426	c.4048C>A	c.(4048-4050)Ctg>Atg	p.L1350M	MYLK_ENST00000475616.1_Missense_Mutation_p.L1350M|MYLK_ENST00000354792.5_Missense_Mutation_p.L150M|MYLK_ENST00000360304.3_Missense_Mutation_p.L1350M|MYLK_ENST00000346322.5_Missense_Mutation_p.L1281M|MYLK_ENST00000359169.1_Missense_Mutation_p.L1350M			Q15746	MYLK_HUMAN	myosin light chain kinase	1350	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACCAGGACAGGGTCAGTGAG	0.547000													20	21					7.45023e-12	5.59546e-11	0.00152264	1	0
NLRP14	338323	broad.mit.edu	37	11	7070914	7070914	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:7070914C>T	ENST00000299481.4	+	6	2482	c.2136C>T	c.(2134-2136)atC>atT	p.I712I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	712					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGAAATTTATCACTTTCCCTG	0.363000													19	83					0	0	0.00152264	0	0
NISCH	11188	broad.mit.edu	37	3	52521644	52521644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:52521644G>A	ENST00000345716.4	+	16	2270	c.2136G>A	c.(2134-2136)tgG>tgA	p.W712*	NISCH_ENST00000479054.1_Nonsense_Mutation_p.W712*	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	712	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AGGTGCTGTGGTGCTTCCTGA	0.632000													25	15					0	0	0.000586117	0	0
MYO5B	4645	broad.mit.edu	37	18	47511176	47511176	+	Silent	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:47511176G>A	ENST00000285039.7	-	8	1157	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	286	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTGATGTATAGAAAAAGTCCT	0.512000													7	58					0	0	0.000157383	0	0
KALRN	8997	broad.mit.edu	37	3	124438270	124438270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:124438270C>T	ENST00000360013.3	+	60	9041	c.8914C>T	c.(8914-8916)Ccc>Tcc	p.P2972S	KALRN_ENST00000428018.2_Missense_Mutation_p.P1243S|KALRN_ENST00000291478.4_Missense_Mutation_p.P1275S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2971					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGGCCTATTCCCAATGTCAA	0.532000													21	28					0	0	0.00047179	0	0
TTC31	64427	broad.mit.edu	37	2	74718708	74718708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:74718708C>T	ENST00000410003.1	+	8	794	c.785C>T	c.(784-786)cCc>cTc	p.P262L	TTC31_ENST00000233623.5_Missense_Mutation_p.P262L|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P118L			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	262							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AACCAGGAGCCCCAAGGCAGG	0.587000													60	41					0	0	0.000781405	0	0
EDEM2	55741	broad.mit.edu	37	20	33703408	33703408	+	Missense_Mutation	SNP	G	G	A	rs146309337	byFrequency	TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:33703408G>A	ENST00000374492.3	-	11	1670	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	EDEM2_ENST00000541621.1_Missense_Mutation_p.S301L|EDEM2_ENST00000542871.1_Missense_Mutation_p.S246L|EDEM2_ENST00000374491.2_Missense_Mutation_p.S485L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	522					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCATGGCCCCGAACTAACAGT	0.522000													103	189					0	0	0.000781405	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185816	127185816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:127185816C>T	ENST00000371124.3	-	1	566	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	124						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AACATCATTTCTGCTAGCTTT	0.507000													47	47					0	0	0.000781405	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18139841	18139841	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:18139841T>C	ENST00000278816.2	+	5	1264	c.614T>C	c.(613-615)gTt>gCt	p.V205A	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.V205A|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.V205A|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.V77A			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	205					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGGAAACTTGTTCATAACAAG	0.483000													21	36					0	0	0.00152264	0	0
SAV1	60485	broad.mit.edu	37	14	51132299	51132299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:51132299G>A	ENST00000324679.4	-	2	496	c.133C>T	c.(133-135)Cca>Tca	p.P45S		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	45					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTTCGTCTTGGAATTGTTGGA	0.358000													5	35					0	0	0.000602214	0	0
LONP2	83752	broad.mit.edu	37	16	48311272	48311272	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:48311272C>G	ENST00000285737.4	+	8	1358	c.1265C>G	c.(1264-1266)cCt>cGt	p.P422R	LONP2_ENST00000535754.1_Missense_Mutation_p.P378R	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	422					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGCATGCCTGGTCGCATC	0.483000													24	78					0	0	0.000720815	0	0
TSC2	7249	broad.mit.edu	37	16	2098705	2098705	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:2098705C>A	ENST00000219476.3	+	2	719	c.89C>A	c.(88-90)tCt>tAt	p.S30Y	TSC2_ENST00000350773.4_Missense_Mutation_p.S30Y|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Missense_Mutation_p.S30Y|TSC2_ENST00000439673.2_Missense_Mutation_p.S30Y|TSC2_ENST00000568454.1_Missense_Mutation_p.S41Y|TSC2_ENST00000353929.4_Missense_Mutation_p.S30Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	30	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AATCCCAGGTCTGCAGAGGGT	0.498000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				24	68					7.87624e-14	5.94028e-13	0.000375601	1	0
SLC2A12	154091	broad.mit.edu	37	6	134349725	134349725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:134349725G>A	ENST00000275230.5	-	2	1393	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	413						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.S413F(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCTGCTATGGGAAGAAATCCC	0.453000													27	39					0	0	0.000720815	0	0
FSTL5	56884	broad.mit.edu	37	4	162841571	162841571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:162841571C>T	ENST00000306100.5	-	4	830	c.394G>A	c.(394-396)Gac>Aac	p.D132N	FSTL5_ENST00000427802.2_Missense_Mutation_p.D131N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D131N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D131N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	132	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGAAGCAGTCTTCATTGTGA	0.383000													19	17					0	0	0.000958276	0	0
MYO7A	4647	broad.mit.edu	37	11	76910721	76910721	+	Silent	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:76910721C>T	ENST00000409709.3	+	35	4982	c.4710C>T	c.(4708-4710)ttC>ttT	p.F1570F	MYO7A_ENST00000409619.2_Silent_p.F1521F|MYO7A_ENST00000458637.2_Silent_p.F1532F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1570	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCCAGCTTCACGCTGGCCA	0.637000													11	19					0	0	0.00136819	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042102	75042102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:75042102C>T	ENST00000343932.4	+	2	86	c.23C>T	c.(22-24)cCc>cTc	p.P8L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	8					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CAGTCTGTTCCCTTCTCGGCC	0.532000													90	207					0	0	0.000781405	0	0
KCNG1	3755	broad.mit.edu	37	20	49626217	49626217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:49626217G>A	ENST00000371571.4	-	2	944	c.659C>T	c.(658-660)cCg>cTg	p.P220L	KCNG1_ENST00000396017.3_Missense_Mutation_p.P220L|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	220						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCCCGAGTGCGGCCTCTCCAC	0.726000													7	19					0	0	8.12818e-05	0	0
C12orf42	374470	broad.mit.edu	37	12	103699889	103699889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:103699889G>A	ENST00000548048.1	-	8	789	c.293C>T	c.(292-294)tCa>tTa	p.S98L	C12orf42_ENST00000378113.2_Missense_Mutation_p.S165L|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.S165L			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	165										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTCCAAAAATGAACTGTTCCA	0.488000													36	56					0	0	0.000491102	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806727	33806727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:33806727C>T	ENST00000260908.7	-	2	619	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	SLFN12L_ENST00000449046.1_Missense_Mutation_p.E199K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E197K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	200						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453000													6	16					0	0	0.000274275	0	0
RYR2	6262	broad.mit.edu	37	1	237872838	237872839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:237872838_237872839insA	ENST00000366574.2	+	70	10518_10519	c.10201_10202insA	c.(10201-10203)agtfs	p.S3401fs	RYR2_ENST00000542537.1_Frame_Shift_Ins_p.S3385fs|RYR2_ENST00000360064.6_Frame_Shift_Ins_p.S3399fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3401					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGGTGGCTGAAGTGTTTATC	0.455													13	15	---	---	---	---					
LOC101928451	101928451	broad.mit.edu	37	7	128210235	128210235	+	RNA	DEL	T	T	-			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:128210235delT	ENST00000605862.1	+	0	189																											gttttagttcttTTTTTTTTT	0.443													4	6	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													8	156	---	---	---	---					
OR6C3	254786	broad.mit.edu	37	12	55726010	55726011	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:55726010_55726011delTG	ENST00000379667.1	+	1	526_527	c.526_527delTG	c.(526-528)tfs	p.C176fs		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCACTTTGCATGTGACTATTTT	0.436													10	323	---	---	---	---					
IGHG1	3500	broad.mit.edu	37	14	106206357	106206357	+	RNA	DEL	G	G	-			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:106206357delG	ENST00000390548.2	-	0	1116																											GTGACAGCATGGGGGACAATG	0.567													15	7	---	---	---	---					
AQR	9716	broad.mit.edu	37	15	35233143	35233143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:35233143delT	ENST00000156471.5	-	8	823	c.598delA	c.(598-600)ttfs	p.I200fs		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	200						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCTTTTTAATCAAGTTCCAG	0.358													58	147	---	---	---	---