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
UGT1A7	54577	broad.mit.edu	37	2	234590879	234590879	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr2:234590879C>T	ENST00000373426.3	+	1	296	c.296C>T	c.(295-297)aCg>aTg	p.T99M	UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2												p.T99M(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTCGCTGGACGGCACCATTG	0.418000													6	105					0	0	0.001168	0	0
ART5	116969	broad.mit.edu	37	11	3661085	3661085	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:3661085G>T	ENST00000397068.3	-	2	966	c.574C>A	c.(574-576)Cac>Aac	p.H192N	ART5_ENST00000397067.3_Missense_Mutation_p.H192N|ART5_ENST00000359918.4_Missense_Mutation_p.H192N	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	192						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAAATCTGTGGGCCACTGCC	0.572000													7	39					1.06961e-07	1.29479e-07	0.003080	1	0
LOC101929735	101929735	broad.mit.edu	37	14	22935245	22935245	+	RNA	SNP	T	T	C			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr14:22935245T>C	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							CAGAGTAAAATACAGAGGAAA	0.358000													28	38					0	0	0.006320	0	0
HIF1AN	55662	broad.mit.edu	37	10	102296171	102296171	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr10:102296171C>A	ENST00000299163.5	+	2	281	c.181C>A	c.(181-183)Cct>Act	p.P61T	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	61	Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CATTTAGGAGCCTGTGGTGCT	0.458000													22	104					1.50039e-11	1.88231e-11	0.012319	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													5	135					0	0	0.014758	0	0
DDX19A	55308	broad.mit.edu	37	16	70404240	70404240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr16:70404240C>T	ENST00000302243.7	+	10	1298	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	DDX19A_ENST00000417604.2_Nonsense_Mutation_p.R348*|DDX19A_ENST00000443119.2_Nonsense_Mutation_p.R289*	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGAGCGCTTCCGAGAGGGCAA	0.622000													3	29					0	0	0.004672	0	0
HMCN1	83872	broad.mit.edu	37	1	186072800	186072800	+	Splice_Site	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:186072800G>A	ENST00000271588.4	+	69	10999	c.10770_splice	c.e69+1	p.Q3590_splice	HMCN1_ENST00000367492.2_Splice_Site_p.Q3590_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3590	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTACTGCTCAGGTAAGTGTCA	0.393000													7	30					0	0	0.003080	0	0
CXorf22	170063	broad.mit.edu	37	X	35974175	35974175	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:35974175T>G	ENST00000297866.5	+	8	1338	c.1272T>G	c.(1270-1272)tgT>tgG	p.C424W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	424										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTAAACCTTGTTTCATGGGTG	0.368000													10	104					0	0	0.008291	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													7	26					0	0	0.001984	0	0
HEPH	9843	broad.mit.edu	37	X	65413378	65413378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:65413378C>T	ENST00000519389.1	+	8	1608	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	HEPH_ENST00000374727.3_Nonsense_Mutation_p.R426*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R423*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R156*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R426*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R426*			Q9BQS7	HEPH_HUMAN	hephaestin	423	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAGCTCCAGCCGAATTGGGGG	0.393000													9	17					0	0	0.004482	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508502	64508502	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:64508502C>T	ENST00000377494.1	-	4	1211	c.289G>A	c.(289-291)Gct>Act	p.A97T	RASGRP2_ENST00000394432.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000354024.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394430.1_Missense_Mutation_p.A97T|RASGRP2_ENST00000377487.1_Missense_Mutation_p.A97T|RASGRP2_ENST00000377486.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000377497.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000377489.1_Missense_Mutation_p.A97T			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	97	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCTGCTCAGCCAACTCCGGG	0.597000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	35					0	0	0.004482	0	0
GRN	2896	broad.mit.edu	37	17	42430078	42430078	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:42430078G>T	ENST00000053867.3	+	13	1756	c.1694G>T	c.(1693-1695)tGc>tTc	p.C565F	GRN_ENST00000589265.1_Missense_Mutation_p.C408F	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	565					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGCTTCCGCTGCGCAGCCAGG	0.667000													10	62					7.48243e-07	8.90151e-07	0.006214	1	0
CCRN4L	25819	broad.mit.edu	37	4	139966007	139966007	+	Silent	SNP	A	A	C			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr4:139966007A>C	ENST00000280614.2	+	3	868	c.675A>C	c.(673-675)ctA>ctC	p.L225L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	225					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CACCTTGTCTAGATGTAGAAC	0.463000													26	51					0	0	0.006320	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891363	29891363	+	Silent	SNP	G	G	A	rs112977823		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr16:29891363G>A	ENST00000308713.5	-	9	1922	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	SEZ6L2_ENST00000537485.1_Silent_p.F421F|SEZ6L2_ENST00000350527.3_Silent_p.F395F|SEZ6L2_ENST00000346932.5_Silent_p.F351F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	465	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAAGGGGGCGAAGCAGCGAT	0.547000													10	29					0	0	0.008291	0	0
WNT10A	80326	broad.mit.edu	37	2	219755048	219755048	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr2:219755048C>T	ENST00000258411.3	+	3	1352	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	240					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACATCCACGCGAGAATGAGG	0.617000													6	31					0	0	0.001168	0	0
BPIFB6	128859	broad.mit.edu	37	20	31626754	31626754	+	Missense_Mutation	SNP	C	C	T	rs150580944		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr20:31626754C>T	ENST00000349552.1	+	9	886	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	296			R -> H (de novo variant found in a patient with mental retardation).			extracellular region	lipid binding										GACCCTGGCTCGCTTCATTCC	0.557000													37	136					0	0	0.009718	0	0
RBM5	10181	broad.mit.edu	37	3	50145726	50145726	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr3:50145726C>T	ENST00000347869.3	+	14	1356	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	394	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGATGCATCATCTGCATCA	0.373000													9	49					0	0	0.004482	0	0
OR4M1	441670	broad.mit.edu	37	14	20249043	20249043	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr14:20249043G>T	ENST00000315957.4	+	1	643	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTCCGGATTGCCTGTGCCAA	0.458000													21	268					1.64293e-13	2.18005e-13	0.018920	1	0
TIAM2	26230	broad.mit.edu	37	6	155458480	155458480	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:155458480G>A	ENST00000461783.3	+	7	2637	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	TIAM2_ENST00000360366.4_Missense_Mutation_p.R455Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R455Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R455Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R455Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	455					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATCCCCTCCGGCAGAACATT	0.512000													5	91					0	0	0.014758	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	31					0	0	0.009096	0	0
LPIN2	9663	broad.mit.edu	37	18	2923796	2923796	+	Silent	SNP	T	T	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr18:2923796T>A	ENST00000261596.4	-	16	2389	c.2151A>T	c.(2149-2151)gcA>gcT	p.A717A		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	717	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTAGAGCTTTGCTATACCCT	0.478000													21	81					0	0	0.010504	0	0
KIAA0141	9812	broad.mit.edu	37	5	141316762	141316762	+	Splice_Site	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:141316762G>T	ENST00000432126.2	+	11	1283		c.e11-1		KIAA0141_ENST00000194118.4_Splice_Site	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141						apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTTAGGACTCACAGA	0.498000													14	86					1.3612e-06	1.59192e-06	0.003163	1	0
RFX2	5990	broad.mit.edu	37	19	6004277	6004277	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr19:6004277T>A	ENST00000303657.5	-	13	1584	c.1435A>T	c.(1435-1437)Aag>Tag	p.K479*	RFX2_ENST00000359161.3_Nonsense_Mutation_p.K479*|RFX2_ENST00000592546.1_Nonsense_Mutation_p.K454*|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCAAGCTCTTGGCAAAGTTA	0.547000													29	101					0	0	0.010818	0	0
C5orf49	134121	broad.mit.edu	37	5	7832094	7832094	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:7832094G>A	ENST00000399810.2	-	3	781	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	C5orf49_ENST00000509627.1_Missense_Mutation_p.R103C	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	105								p.R105C(1)		large_intestine(3)|lung(5)|skin(1)	9						TGATTGATGCGCTTCCCATAG	0.542000													9	156					0	0	0.008291	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935802	34935802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:34935802C>T	ENST00000304718.4	+	8	1289	c.973C>T	c.(973-975)Cag>Tag	p.Q325*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	325					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCAGACATGGCAGATGCTTTT	0.433000													7	120					0	0	0.001984	0	0
IL17RA	23765	broad.mit.edu	37	22	17578691	17578691	+	Silent	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr22:17578691C>T	ENST00000319363.6	+	3	301	c.168C>T	c.(166-168)acC>acT	p.T56T	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	56					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGCCAGGTACCTGCCTGGATG	0.567000													9	38					0	0	0.008291	0	0
KIAA0930	23313	broad.mit.edu	37	22	45601760	45601760	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr22:45601760G>A	ENST00000336156.4	-	3	315	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	KIAA0930_ENST00000391627.2_Missense_Mutation_p.R50W|KIAA0930_ENST00000443310.3_Missense_Mutation_p.R66W|KIAA0930_ENST00000251993.7_Missense_Mutation_p.R89W	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	84							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GAGTCCCGCCGGTACACCTCC	0.617000													10	49					0	0	0.006214	0	0
ABCA8	10351	broad.mit.edu	37	17	66883568	66883568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:66883568G>A	ENST00000269080.2	-	23	3241	c.3104C>T	c.(3103-3105)tCc>tTc	p.S1035F	ABCA8_ENST00000586539.1_Missense_Mutation_p.S1075F|ABCA8_ENST00000430352.2_Missense_Mutation_p.S1075F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1035						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAGTACAGGGAAACATCCAC	0.418000													11	104					0	0	0.010729	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893450	118893450	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:118893450G>A	ENST00000343905.3	+	1	875	c.820G>A	c.(820-822)Gcg>Acg	p.A274T		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	274																	CGCAGTGGGCGCGACGGCTGT	0.667000													4	21					0	0	0.009096	0	0
IQUB	154865	broad.mit.edu	37	7	123101543	123101543	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:123101543A>T	ENST00000466202.1	-	11	2451	c.1875T>A	c.(1873-1875)tgT>tgA	p.C625*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.C625*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	625										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGCAGTTACGACACCGGTATA	0.368000													7	40					0	0	0.003080	0	0
LBX1	10660	broad.mit.edu	37	10	102987175	102987175	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr10:102987175C>T	ENST00000370193.2	-	2	1676	c.698G>A	c.(697-699)gGc>gAc	p.G233D		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	233					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GACCGGAGAGCCGGGCCTCGA	0.756000													6	21					0	0	0.001168	0	0
CYB5R2	51700	broad.mit.edu	37	11	7689764	7689764	+	Silent	SNP	C	C	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:7689764C>A	ENST00000533558.1	-	6	973	c.417G>T	c.(415-417)acG>acT	p.T139T	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Silent_p.T139T|CYB5R2_ENST00000524790.1_Silent_p.T139T|CYB5R2_ENST00000299497.9_Silent_p.T139T			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	139					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGGCTCACTCGTCTGGTCTG	0.507000													27	104					9.65021e-13	1.23308e-12	0.010818	1	0
POM121L12	285877	broad.mit.edu	37	7	53103492	53103492	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:53103492C>T	ENST00000408890.4	+	1	144	c.128C>T	c.(127-129)aCg>aTg	p.T43M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	43								p.T43M(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCAGACCACGCCATCTCCC	0.682000													4	39					0	0	0.014758	0	0
OCA2	4948	broad.mit.edu	37	15	28230313	28230313	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr15:28230313G>A	ENST00000354638.3	-	13	1416	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	OCA2_ENST00000353809.5_Missense_Mutation_p.R397W|OCA2_ENST00000382996.2_Missense_Mutation_p.R421W	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	421					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.R421W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCCACACCCGTCCCCGGGAG	0.572000									Oculocutaneous Albinism				4	11					0	0	0.014758	0	0
PHKA2	5256	broad.mit.edu	37	X	18972425	18972425	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:18972425G>A	ENST00000379942.4	-	2	849	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	62					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCATTCTTACGGTAGGCCATG	0.597000													19	77					0	0	0.007413	0	0
RLF	6018	broad.mit.edu	37	1	40703344	40703344	+	Silent	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:40703344G>A	ENST00000372771.4	+	8	2997	c.2970G>A	c.(2968-2970)acG>acA	p.T990T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	990					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATAAAGACGAAAGATCTGT	0.408000													12	55					0	0	0.010729	0	0
CD109	135228	broad.mit.edu	37	6	74440235	74440235	+	Missense_Mutation	SNP	C	C	T	rs137899447	by1000genomes	TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:74440235C>T	ENST00000437994.2	+	4	876	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Missense_Mutation_p.R149C	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	149						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R149C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTGAAGTTTCGCATTGTTAC	0.373000													3	35					0	0	0.004672	0	0
EDIL3	10085	broad.mit.edu	37	5	83402601	83402601	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:83402601G>T	ENST00000296591.5	-	6	935	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	EDIL3_ENST00000380138.3_Missense_Mutation_p.Q163K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	173	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTGTGATTTGCTGGTTTGAT	0.393000													17	105					6.94344e-10	8.55531e-10	0.006122	1	0
SOX18	54345	broad.mit.edu	37	20	62680604	62680604	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr20:62680604A>C	ENST00000340356.7	-	1	390	c.266T>G	c.(265-267)aTg>aGg	p.M89R		NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	89					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GAAGGCGTTCATGGGCCGCCG	0.721000													16	30					0	0	0.008871	0	0
FOXP4	116113	broad.mit.edu	37	6	41566645	41566645	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:41566645G>A	ENST00000373060.1	+	17	2472	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	FOXP4_ENST00000307972.4_Missense_Mutation_p.E672K|FOXP4_ENST00000373063.3_Missense_Mutation_p.E659K|FOXP4_ENST00000409208.1_Missense_Mutation_p.E660K|FOXP4_ENST00000373057.3_Missense_Mutation_p.E670K	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	672					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGACCTGGAGGAGGAGCTGCC	0.687000													5	14					0	0	0.001168	0	0
CWC25	54883	broad.mit.edu	37	17	36963178	36963178	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:36963178G>C	ENST00000225428.4	-	7	1039	c.742C>G	c.(742-744)Caa>Gaa	p.Q248E	CWC25_ENST00000536127.1_Missense_Mutation_p.Q185E	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	248										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCTCTCTTTTGCTCTGCTGTC	0.507000													13	57					0	0	0.020292	0	0
DDX56	54606	broad.mit.edu	37	7	44612540	44612540	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:44612540C>T	ENST00000258772.5	-	3	438	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	DDX56_ENST00000431640.1_Missense_Mutation_p.R111Q|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	111	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCGGACATCCCGAGCACAGTA	0.527000													38	82					0	0	0.019004	0	0
ALPK1	80216	broad.mit.edu	37	4	113353310	113353310	+	Silent	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr4:113353310C>T	ENST00000458497.1	+	11	2886	c.2607C>T	c.(2605-2607)caC>caT	p.H869H	ALPK1_ENST00000177648.9_Silent_p.H869H|ALPK1_ENST00000504176.2_Silent_p.H791H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	869							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAATGGGCACGGCTCTCATA	0.597000													13	22					0	0	0.016723	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741082	140741082	+	Silent	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:140741082C>T	ENST00000522605.1	+	1	1380	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATGGTTCACGTGGCAGAGA	0.557000													26	67					0	0	0.004656	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													3	3					0	0	0.004672	0	0
HIST4H4	121504	broad.mit.edu	37	12	14923918	14923918	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr12:14923918G>A	ENST00000539745.1	-	1	147	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						ACGGCGAATCGCCGGCTTTGT	0.607000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	52					0	0	0.010818	0	0
KLRC2	3822	broad.mit.edu	37	12	10584759	10584759	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr12:10584759C>A	ENST00000381902.2	-	5	536	c.530G>T	c.(529-531)cGt>cTt	p.R177L	NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.R118L|KLRC2_ENST00000381901.1_Missense_Mutation_p.R177L	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	177	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTGCTGTTACGAAACACACC	0.294000													11	26					2.48551e-13	3.23585e-13	0.004990	1	0
CILP2	148113	broad.mit.edu	37	19	19655208	19655208	+	Silent	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr19:19655208G>A	ENST00000586018.1	+	8	1974	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	CILP2_ENST00000291495.4_Silent_p.A618A			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	618						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						TCACCTCGGCGGCGTCTGCCC	0.697000													7	118					0	0	0.003080	0	0
MST1L	11223	broad.mit.edu	37	1	17083671	17083671	+	RNA	SNP	C	C	G	rs1057420	by1000genomes	TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:17083671C>G	ENST00000455405.2	-	0	917																											aagtcttGTCCTTGACTGTAC	0.403000													5	22					0	0	0.014758	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157441	26157441	+	Silent	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:26157441G>A	ENST00000325250.1	+	2	526	c.339G>A	c.(337-339)tcG>tcA	p.S113S		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	113	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTAGTGTCGCTGGTGCATT	0.413000													8	11					0	0	0.003080	0	0
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:154842200_154842202delGCT	ENST00000271915.3	-	1	554_556	c.239_241delAGC	c.(238-243)cca>c	p.QP80del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.700													2	4	---	---	---	---					
ADAMTS7	11173	broad.mit.edu	37	15	79059020	79059021	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr15:79059020_79059021insA	ENST00000388820.4	-	19	3442_3443	c.3232_3233insT	c.(3232-3234)cggfs	p.R1078fs		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1078					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGGGCCCGTAGGACAGATCC	0.624													9	35	---	---	---	---