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
CYP4B1	1580	broad.mit.edu	37	1	47278284	47278284	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:47278284C>T	uc001cqn.4	+	3	568	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.R162C|CYP4B1_uc009vym.3_Missense_Mutation_p.R147C|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	162					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGAGTCTACACGTATCATGCT	0.567												
HRNR	388697	broad.mit.edu	37	1	152187706	152187706	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:152187706G>A	uc001ezt.1	-	2	6475	c.6399C>T	c.(6397-6399)taC>taT	p.Y2133Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2133					keratinization		calcium ion binding|protein binding	p.Y2133*(2)|p.Y2133Y(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGTCCGTAGCCAGAGG	0.567												
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:153362715T>C	uc001fbs.3	-	2	316	c.146A>G	c.(145-147)aAg>aGg	p.K49R		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507												
KCNK18	338567	broad.mit.edu	37	10	118969028	118969028	+	Missense_Mutation	SNP	G	G	A	rs141958329		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr10:118969028G>A	uc010qsr.2	+	2	373	c.373G>A	c.(373-375)Gtc>Atc	p.V125I		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	125						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATCTACCCCGTCACCAGGCT	0.507												
ZNF215	7762	broad.mit.edu	37	11	6964441	6964441	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:6964441G>A	uc001mey.3	+	4	1199	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	204	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATTCATTGCGTAAAGGTGGT	0.418												
OLFML1	283298	broad.mit.edu	37	11	7509544	7509544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:7509544C>T	uc001mfi.3	+	1	823	c.316C>T	c.(316-318)Cga>Tga	p.R106*	BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_Intron|OLFML1_uc010rba.2_Nonsense_Mutation_p.R106*	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	106						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACAATACCTTCGAGAGGCTGA	0.478												
OR4P4	81300	broad.mit.edu	37	11	55406751	55406751	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:55406751G>T	uc010rij.2	+	0	918	c.918G>T	c.(916-918)ctG>ctT	p.L306L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L306L(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAATACTCCTGAAAAGAAATC	0.398												
LRRC55	219527	broad.mit.edu	37	11	56950136	56950136	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:56950136C>T	uc001njl.2	+	0	916	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	227	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCGAAACCGGATCCAGCG	0.617												
LRP5	4041	broad.mit.edu	37	11	68206026	68206026	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:68206026G>A	uc001ont.3	+	19	4299	c.4224G>A	c.(4222-4224)caG>caA	p.Q1408Q	LRP5_uc009ysg.3_Silent_p.Q818Q	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1408					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						TTGTGTGCCAGCGCGTGGTGT	0.652												
KDELC2	143888	broad.mit.edu	37	11	108350192	108350192	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:108350192C>T	uc001pkj.2	-	5	1195	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	KDELC2_uc001pki.2_Missense_Mutation_p.V321M	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	377						endoplasmic reticulum lumen		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAGCAGCCACGGTCCCATCC	0.408												
USP2	9099	broad.mit.edu	37	11	119229846	119229846	+	Splice_Site	DEL	T	T	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:119229846delT	uc001pwm.4	-	6	1357	c.1062_splice	c.e6-1	p.N354_splice	USP2_uc001pwl.4_Splice_Site_p.N145_splice|USP2_uc001pwn.4_Splice_Site_p.N111_splice	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	354					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCCTGCTGACTGAACCCAAAG	0.527												
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612												
DIAPH3	81624	broad.mit.edu	37	13	60545255	60545256	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:60545255_60545256GA>AT	uc001vht.3	-	15	1908_1909	c.1689_1690TC>AT	c.(1687-1692)cctccc>ccATcc	p.P564S	DIAPH3_uc001vhu.3_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.3_Missense_Mutation_p.P142S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	564	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTTAGAGGGAGGCAAAGGAA	0.495												
SLITRK1	114798	broad.mit.edu	37	13	84455310	84455310	+	Silent	SNP	C	C	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:84455310C>A	uc001vlk.3	-	0	1219	c.333G>T	c.(331-333)ctG>ctT	p.L111L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	111						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTGATGTGCAGCCTTTTCA	0.433												
SLC39A9	55334	broad.mit.edu	37	14	69920026	69920026	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr14:69920026G>A	uc001xle.3	+	4	1174	c.472_splice	c.e4+1	p.A158_splice	SLC39A9_uc021rvg.1_Splice_Site_p.A40_splice|SLC39A9_uc021rvh.1_Splice_Site_p.A40_splice|SLC39A9_uc001xlf.4_Splice_Site_p.A158_splice|SLC39A9_uc010aqx.3_Intron|SLC39A9_uc001xlg.4_Splice_Site	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	158					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CCATGCTGCAGGTAGGGTTGG	0.463												
TCF12	6938	broad.mit.edu	37	15	57524624	57524624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr15:57524624delG	uc002aec.3	+	9	1105	c.821delG	c.(820-822)cgcfs	p.R274fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.3_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.3_Frame_Shift_Del_p.R274fs|TCF12_uc010ugo.2_Intron|TCF12_uc002aee.3_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.3_Frame_Shift_Del_p.R104fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	274					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGC	0.443			T	TEC	extraskeletal myxoid chondrosarcoma							
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr17:39659673G>A	uc002hwu.1	-	2	664	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_uc002hwv.1_Missense_Mutation_p.R201C|KRT13_uc010wfr.2_Missense_Mutation_p.R94C|KRT13_uc010cxo.3_Missense_Mutation_p.R201C|KRT13_uc021txk.1_Missense_Mutation_p.R94C	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R201H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483												
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr18:14513675T>C	uc010dln.3	-	9	1973	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	507								p.K507E(4)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284												
CNDP2	55748	broad.mit.edu	37	18	72178127	72178127	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr18:72178127C>T	uc002llm.2	+	5	795	c.536C>T	c.(535-537)gCc>gTc	p.A179V	CNDP2_uc002lln.2_Missense_Mutation_p.A95V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	179						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATTTTTGCCCGGAAAGAC	0.527												
ATG4D	84971	broad.mit.edu	37	19	10657548	10657548	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:10657548C>T	uc002mov.3	+	3	647	c.527C>T	c.(526-528)cCc>cTc	p.P176L	ATG4D_uc010xlg.2_Missense_Mutation_p.P199L|ATG4D_uc010xlh.2_Missense_Mutation_p.P113L|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Intron|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	176					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCTGGGCCCCCCTGAGCTG	0.657												
NWD1	284434	broad.mit.edu	37	19	16883984	16883984	+	Missense_Mutation	SNP	G	G	A	rs139109286	by1000genomes	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:16883984G>A	uc002neu.4	+	10	2880	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	NWD1_uc002net.4_Missense_Mutation_p.A685T|NWD1_uc002nev.4_Missense_Mutation_p.A614T|NWD1_uc021uqg.1_Missense_Mutation_p.A685T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	820							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						CCATTTCTTCGCCACCTCACA	0.577												
MEGF8	1954	broad.mit.edu	37	19	42879827	42879827	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:42879827G>A	uc002otl.4	+	40	7872	c.7237G>A	c.(7237-7239)Gtg>Atg	p.V2413M	MEGF8_uc002otm.4_Missense_Mutation_p.V2021M|MEGF8_uc002otn.4_Missense_Mutation_p.V74M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2480	Laminin EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTCTTTGGCGTGCAGCCCAA	0.637												
ZNF665	79788	broad.mit.edu	37	19	53668521	53668521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:53668521C>T	uc010eqm.1	-	3	1322	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V408I(1)|p.V343I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAACCTTGACGCATTCATTA	0.398												
CYTIP	9595	broad.mit.edu	37	2	158300464	158300464	+	Silent	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:158300464C>T	uc002tzj.1	-	0	141	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	23					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AAGAGCTATACGCTGGCCCAG	0.512												
SGOL2	151246	broad.mit.edu	37	2	201434569	201434569	+	Silent	SNP	A	A	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:201434569A>G	uc002uvw.2	+	5	770	c.657A>G	c.(655-657)ttA>ttG	p.L219L	SGOL2_uc002uvv.4_Silent_p.L219L|SGOL2_uc010zhd.1_Silent_p.L219L|SGOL2_uc010zhe.1_Silent_p.L219L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	219					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TATATGGTTTAGATGATTCAG	0.303												
COL4A3	1285	broad.mit.edu	37	2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228118844A>G	uc002vom.2	+	13	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	261	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433												
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228884217G>A	uc002vpq.2	-	6	1400	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507												
HCK	3055	broad.mit.edu	37	20	30674471	30674471	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr20:30674471G>A	uc002wxh.3	+	8	1113	c.876G>A	c.(874-876)atG>atA	p.M292I	HCK_uc010gdy.3_Missense_Mutation_p.M272I|HCK_uc021wbv.1_Missense_Mutation_p.M271I|HCK_uc002wxi.3_Missense_Mutation_p.M270I	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	292	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGAAGACGATGAAGCCAGGGA	0.577												
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr20:58467047delT	uc002yaz.3	-	22	2501	c.2362delA	c.(2362-2364)atgfs	p.M788fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	788					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.M788fs*1(2)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323												
PPARA	5465	broad.mit.edu	37	22	46594404	46594404	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr22:46594404G>A	uc003bhb.1	+	1	247	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PPARA_uc003bgw.1_Missense_Mutation_p.G42S|PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	42					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCAATCCATCGGCGAGGATAG	0.527												
DPPA4	55211	broad.mit.edu	37	3	109050752	109050752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:109050752C>T	uc003dxq.4	-	2	360	c.305G>A	c.(304-306)tGg>tAg	p.W102*	DPPA4_uc011bho.2_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	102						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGTTGGCACCAGGCCCGCAG	0.532												
FNDC3B	64778	broad.mit.edu	37	3	172096080	172096080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:172096080G>A	uc003fhy.3	+	23	3201	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E	FNDC3B_uc003fhz.4_Missense_Mutation_p.G1010E	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1010	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATCTACAGAGGACCCAGCCAC	0.448												
CPZ	8532	broad.mit.edu	37	4	8621243	8621243	+	Missense_Mutation	SNP	C	C	T	rs143690050		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:8621243C>T	uc003glm.3	+	10	2032	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R609W|CPZ_uc003gln.3_Missense_Mutation_p.R483W	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	620					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.R620L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGACCCGCTCCGGGCGCGCAG	0.667												
ADH1C	126	broad.mit.edu	37	4	100268910	100268910	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:100268910G>A	uc021xqi.1	-	1		c.197C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATGCGAACTTCATGA	0.338												
LRBA	987	broad.mit.edu	37	4	151791721	151791725	+	Frame_Shift_Del	DEL	TTATG	TTATG	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:151791721_151791725delTTATG	uc010ipj.3	-	19	2645_2649	c.2401_2405delCATAA	c.(2401-2406)cataaafs	p.H801fs	LRBA_uc003ilu.4_Frame_Shift_Del_p.H801fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	801						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.I800V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGATGCTGTTTATGTATCACCTGA	0.312												
DCHS2	54798	broad.mit.edu	37	4	155249289	155249289	+	Missense_Mutation	SNP	G	G	A	rs111557030	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:155249289G>A	uc003inw.2	-	11	2609	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	DCHS2_uc003inx.2_Missense_Mutation_p.P1325L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	870	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P870H(2)|p.P1325H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTTCATCAGGATCCTTTGC	0.348												
ADAMTS16	170690	broad.mit.edu	37	5	5146447	5146447	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5146447C>T	uc003jdl.3	+	2	518	c.380C>T	c.(379-381)aCg>aTg	p.T127M	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	127					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q126*(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTGTGCAGACGTTGGGAAAG	0.522												
ADAMTS16	170690	broad.mit.edu	37	5	5190212	5190212	+	Silent	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5190212T>C	uc003jdl.3	+	6	1314	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C	ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	392	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGATATATGTTCCTGGAAGA	0.527												
RASGRF2	5924	broad.mit.edu	37	5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:80408515C>T	uc003kha.2	+	13	1975	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	642	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483												
PCDHGC5	56103	broad.mit.edu	37	5	140741338	140741338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:140741338G>A	uc003ljs.2	+	0	1636	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.V546M|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCCAACGTGAGCCTGCG	0.682												
TIMD4	91937	broad.mit.edu	37	5	156346519	156346519	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:156346519G>T	uc003lwh.2	-	8	1143	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L	TIMD4_uc010jii.2_Silent_p.L334L|TIMD4_uc003lwg.2_Silent_p.L64L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	362						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACGTCATTGAGGACATTTT	0.438												
GABRA6	2559	broad.mit.edu	37	5	161116076	161116076	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:161116076C>A	uc003lyu.2	+	3	685	c.347C>A	c.(346-348)aCc>aAc	p.T116N	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	116					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACGCCTGACACCTTTTTCAGA	0.418										TCGA Ovarian(5;0.080)		
TMEM63B	55362	broad.mit.edu	37	6	44107303	44107303	+	Silent	SNP	C	C	T	rs145356402		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:44107303C>T	uc003owr.3	+	6	571	c.507C>T	c.(505-507)tcC>tcT	p.S169S	TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.3_Silent_p.S72S|TMEM63B_uc010jyz.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	169						integral to membrane	nucleotide binding|protein binding	p.S169S(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCGTCCTCTCCGTAGGCATCG	0.627												
VNN2	8875	broad.mit.edu	37	6	133078573	133078573	+	Missense_Mutation	SNP	G	G	A	rs149351884		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:133078573G>A	uc003qdt.3	-	1	337	c.326C>T	c.(325-327)cCg>cTg	p.P109L	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P109L|VNN2_uc003qdv.3_Missense_Mutation_p.P56L	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	109	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCTTGACACGGAATCCAGTT	0.418												
GRM3	2913	broad.mit.edu	37	7	86468833	86468833	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:86468833G>A	uc003uid.3	+	3	3102	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.R540H|GRM3_uc010leh.3_Missense_Mutation_p.R260H	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	668					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCATTGCCCGCATCTTCGAT	0.537												
ZKSCAN5	23660	broad.mit.edu	37	7	99123821	99123821	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:99123821G>T	uc003uqv.3	+	5	1282	c.1158G>T	c.(1156-1158)cgG>cgT	p.R386R	ZKSCAN5_uc010lfx.3_Silent_p.R386R|ZKSCAN5_uc003uqw.3_Silent_p.R386R|ZKSCAN5_uc003uqx.3_Silent_p.R313R|ZKSCAN5_uc003uqy.3_Silent_p.R122R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	386					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAATCAGCGGGTGCACCTCA	0.537												
KEL	3792	broad.mit.edu	37	7	142658590	142658590	+	Splice_Site	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:142658590T>C	uc003wcb.3	-	3	292	c.82_splice	c.e3-1	p.S28_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	28					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAGTGCTCTGTGGGAGGAA	0.552												
DLC1	10395	broad.mit.edu	37	8	12956045	12956045	+	Silent	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:12956045C>T	uc003wwm.2	-	9	3474	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1010					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGAGGCTTGGCCGATGTGAGC	0.468												
TUSC3	7991	broad.mit.edu	37	8	15519787	15519787	+	Silent	SNP	T	T	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:15519787T>G	uc003wwt.3	+	4	1034	c.690T>G	c.(688-690)ggT>ggG	p.G230G	TUSC3_uc003wwu.3_Silent_p.G230G	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	230					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACAAGACTGGTTGGGCCATGG	0.368												
SFTPC	6440	broad.mit.edu	37	8	22020183	22020183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22020183G>A	uc003xaw.4	+	4	989	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SFTPC_uc003xax.4_Missense_Mutation_p.V47I|SFTPC_uc003xay.4_Missense_Mutation_p.V47I|SFTPC_uc003xaz.3_Missense_Mutation_p.V47I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	47	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTCCTCATCGTCGTGGTGAT	0.597												
PHYHIP	9796	broad.mit.edu	37	8	22079267	22079267	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22079267C>G	uc003xbk.4	-	5	1286	c.592G>C	c.(592-594)Gac>Cac	p.D198H	PHYHIP_uc003xbj.4_Missense_Mutation_p.D198H	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	198										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TAGGGGGAGTCCTGCGGGGGC	0.627												
PCMTD1	115294	broad.mit.edu	37	8	52733107	52733107	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:52733107T>C	uc003xqx.4	-	5	1219	c.878A>G	c.(877-879)aAt>aGt	p.N293S	PCMTD1_uc011ldm.2_Missense_Mutation_p.N163S|PCMTD1_uc011ldn.2_Missense_Mutation_p.N105S|PCMTD1_uc010lya.3_Missense_Mutation_p.N217S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	293						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATAAGCTGATTACCCACAAA	0.408												
KCNB2	9312	broad.mit.edu	37	8	73848231	73848231	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:73848231C>T	uc003xzb.3	+	2	1229	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	214					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)			TCTCTCAATACGCTGCCGGAG	0.478												
CNKSR2	22866	broad.mit.edu	37	X	21508621	21508621	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chrX:21508621G>T	uc004czx.2	+	5	1086	c.606G>T	c.(604-606)tcG>tcT	p.S202S	CNKSR2_uc004czw.3_Silent_p.S202S|CNKSR2_uc011mjn.2_Silent_p.S202S|CNKSR2_uc011mjo.2_Silent_p.S202S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	202					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATCCCTGTCGTCAGATCCTC	0.398