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
TPTEP1	387590	broad.mit.edu	37	22	17119520	17119520	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:17119520C>A	ENST00000426585.1	+	0	332																											TCCTTGCCGACCTAATTTTCA	0.328000													10	154					9.05144e-12	1.25933e-11	1	1	0
FLOT2	2319	broad.mit.edu	37	17	27209238	27209238	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:27209238C>T	ENST00000394906.2	-	9	839	c.762G>A	c.(760-762)aaG>aaA	p.K254K	FLOT2_ENST00000585169.1_Silent_p.K199K|FLOT2_ENST00000394908.4_Silent_p.K199K|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	199					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		p.K199K(2)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAGCATCTCCTTCTTGCACT	0.522000													14	118					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53581722	53581722	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:53581722G>C	ENST00000342160.3	-	60	8823	c.8366C>G	c.(8365-8367)tCt>tGt	p.S2789C	HUWE1_ENST00000262854.6_Missense_Mutation_p.S2789C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2789					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.S2789C(1)|p.S2667C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAGCTGGAGACTGCAGCTC	0.557000													8	115					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625667	65625667	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:65625667C>T	ENST00000327987.4	-	6	1161	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	304	Ig-like C2-type 3.							p.V304I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGACGTAGACGCCAGAGTGC	0.627000													6	31					0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161088937	161088937	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:161088937G>T	ENST00000368008.1	+	3	171	c.112G>T	c.(112-114)Gct>Tct	p.A38S	NIT1_ENST00000392190.5_Missense_Mutation_p.A2S|NIT1_ENST00000368007.4_Missense_Mutation_p.A23S|NIT1_ENST00000368009.2_Missense_Mutation_p.A38S|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	38					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGAGCCATGGCTATCTCCTC	0.512000													12	92					3.27435e-08	4.03708e-08	1	1	0
CPOX	1371	broad.mit.edu	37	3	98311879	98311879	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:98311879A>T	ENST00000264193.2	-	1	688	c.470T>A	c.(469-471)cTg>cAg	p.L157Q		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	157						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	p.L157Q(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTGGGTCTCCAGAATCAGCAG	0.657000													4	3					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:125298619G>C	ENST00000538699.1	-	2	1369	c.1289C>G	c.(1288-1290)gCg>gGg	p.A430G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A430G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602000													20	142					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													7	23					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26667141	26667141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:26667141G>T	ENST00000288710.2	+	9	1154	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.K360N(2)									AGCAAATAAAGCAGTTTCAGG	0.408000													16	78					0.000132079	0.00014701	1	1	0
BOC	91653	broad.mit.edu	37	3	112993283	112993283	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:112993283C>A	ENST00000495514.1	+	9	2000	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	BOC_ENST00000355385.3_Silent_p.P432P|BOC_ENST00000273395.4_Silent_p.P432P			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	432					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.P432P(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGTATCACCCTCCAAACTCG	0.607000													11	88					0.000673444	0.000724377	1	1	0
RBM10	8241	broad.mit.edu	37	X	47044719	47044719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:47044719C>T	ENST00000377604.3	+	19	2861	c.2119C>T	c.(2119-2121)Cag>Tag	p.Q707*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q629*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q630*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	707					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.Q707*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGCCGAGAGACAGCACACCAG	0.632000													3	13					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618088	111618088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:111618088C>T	ENST00000374667.3	-	1	1151	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	41						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.M41I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTGGGCTTCATCTTGAGCT	0.657000													10	94					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517245	20517245	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:20517245C>T	ENST00000375099.3	+	2	275	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	64								p.P64L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CATCATATACCATCTCCGCCT	0.537000													24	151					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719632	140719632	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:140719632T>C	ENST00000394576.2	+	1	1094	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.I365T(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCATAATTGGGCTT	0.428000													23	177					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96274626	96274626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:96274626G>A	ENST00000347108.3	-	7	1513	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	DZIP1_ENST00000361156.3_Missense_Mutation_p.H361Y|DZIP1_ENST00000361396.2_Missense_Mutation_p.H361Y|DZIP1_ENST00000376829.2_Missense_Mutation_p.H361Y			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	361					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.H361Y(4)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGACATTATGGAAATCCTGG	0.423000													33	335					0	0	1	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038323	117038323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:117038323G>T	ENST00000527958.1	+	6	757	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000526888.1_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	200					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	p.G200W(2)		kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TCTGACAGGAGGGGGCTATGC	0.532000			T	IGH@	MLCLS								30	114					7.68411e-24	1.32022e-23	1	1	0
HBD	3045	broad.mit.edu	37	11	5253995	5253995	+	Missense_Mutation	SNP	C	C	A	rs35324967		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:5253995C>A	ENST00000292901.3	-	3	398	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W				P02042	HBD_HUMAN	hemoglobin, delta	0			R -> C (in Corfu/Troodos; dbSNP:rs33971270).|R -> H (in Coburg; dbSNP:rs34536353).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGTGCTCCCTATCTGTAGA	0.393000											OREG0000407	type=REGULATORY POLYMORPHISM|Gene=HBD|EvidenceSubtype=Direct gel shift	10	59					4.3838e-07	5.14795e-07	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761412	55761412	+	Silent	SNP	C	C	G	rs144082157	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:55761412C>G	ENST00000278409.1	-	1	689	c.690G>C	c.(688-690)tcG>tcC	p.S230S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCCCTCCCCCGAATGCATAG	0.478000													23	131					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618186	77618186	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:77618186G>T	ENST00000521891.2	+	2	2311	c.1863G>T	c.(1861-1863)gtG>gtT	p.V621V	ZFHX4_ENST00000455469.2_Silent_p.V621V|ZFHX4_ENST00000518282.1_Silent_p.V621V|ZFHX4_ENST00000050961.6_Silent_p.V621V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	621						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V621V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCGACACTGTGTTGGGGTCTT	0.532000										HNSCC(33;0.089)			22	133					5.45024e-15	8.11198e-15	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875730	247875730	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:247875730T>A	ENST00000302084.2	-	1	375	c.328A>T	c.(328-330)Aca>Tca	p.T110S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110S(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGTACTCTGTGCAGCCTAAT	0.498000													46	130					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960520	7960520	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:7960520G>T	ENST00000360759.3	-	1	621	c.548C>A	c.(547-549)cCg>cAg	p.P183Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183Q(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGTACCGGGGGAGTCTC	0.433000													21	152					9.95505e-16	1.50798e-15	1	1	0
FCRL1	115350	broad.mit.edu	37	1	157771827	157771827	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:157771827G>A	ENST00000358292.3	-	5	815	c.764C>T	c.(763-765)cCc>cTc	p.P255L	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.P255L|FCRL1_ENST00000368176.3_Missense_Mutation_p.P255L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	255	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.P255L(4)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTCCAGAGGGGGCCGACCT	0.582000													57	223					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30930520	30930520	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:30930520C>A	ENST00000597505.1	-	27	3890	c.3891G>T	c.(3889-3891)gtG>gtT	p.V1297V	DCDC1_ENST00000339794.5_Silent_p.V376V|DCDC1_ENST00000406071.2_Silent_p.V32V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.V376V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTCTTTAATCACAGATGATG	0.318000													26	142					2.09667e-21	3.48537e-21	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438759	120438759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:120438759C>A	ENST00000369400.1	-	1	359	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q67H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCCTTTTAACTGCAGTAGGT	0.542000													17	105					2.94398e-08	3.69441e-08	1	1	0
IPO7	10527	broad.mit.edu	37	11	9463643	9463643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:9463643A>G	ENST00000379719.3	+	24	3060	c.2918A>G	c.(2917-2919)aAt>aGt	p.N973S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	973					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.N973S(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAAAATCGTAATCCTGTGTGG	0.403000													21	126					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55412488	55412488	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:55412488A>T	ENST00000341048.4	-	9	1070	c.919T>A	c.(919-921)Tac>Aac	p.Y307N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.Y264N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Y19N|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	306								p.Y307N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGACCGCAGTACAGGGCATAG	0.507000													27	222					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913163	111913163	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:111913163C>A	ENST00000368761.5	-	2	605	c.127G>T	c.(127-129)Gca>Tca	p.A43S	TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.A52S|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.A43S|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	52					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.A52S(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGTTGGGTGCCATGTTCCTT	0.478000													15	104					3.45872e-05	3.93525e-05	1	1	0
EDEM2	55741	broad.mit.edu	37	20	33714148	33714148	+	Missense_Mutation	SNP	C	C	A	rs148170838	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:33714148C>A	ENST00000540582.1	-	12	1473	c.752G>T	c.(751-753)cGc>cTc	p.R251L	EDEM2_ENST00000542871.1_Missense_Mutation_p.R16L|EDEM2_ENST00000374492.3_Missense_Mutation_p.R292L|EDEM2_ENST00000541621.1_Missense_Mutation_p.R71L|EDEM2_ENST00000374491.2_Missense_Mutation_p.R255L			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	292					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.R292L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCATCGAAGCGGGTGTAGTT	0.532000													7	87					7.48243e-07	8.74658e-07	1	1	0
CAPS	828	broad.mit.edu	37	19	5915081	5915081	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:5915081G>A	ENST00000588776.1	+	4	3017	c.650G>A	c.(649-651)cGc>cAc	p.R217H	CAPS_ENST00000222125.5_Missense_Mutation_p.R131H|CAPS_ENST00000452990.2_Intron			Q13938	CAYP1_HUMAN	calcyphosine	131					intracellular signal transduction	cytoplasm	calcium ion binding	p.R131H(1)		cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						CCCAAGGTGCGCAGTGGGGAG	0.692000													4	35					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562935	179562935	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:179562935C>A	ENST00000444136.1	+	3	823	c.573C>A	c.(571-573)acC>acA	p.T191T	TDRD5_ENST00000367614.1_Silent_p.T191T|TDRD5_ENST00000294848.8_Silent_p.T191T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	191	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.T191T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGAGCAGACCAGAGCAGGTT	0.433000													69	140					9.07738e-34	1.69621e-33	1	1	0
TNC	3371	broad.mit.edu	37	9	117803262	117803262	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:117803262C>T	ENST00000350763.4	-	19	5761	c.5350G>A	c.(5350-5352)Ggc>Agc	p.G1784S	TNC_ENST00000346706.3_Missense_Mutation_p.G1238S|TNC_ENST00000341037.4_Missense_Mutation_p.G1602S|TNC_ENST00000345230.3_Missense_Mutation_p.G1147S|TNC_ENST00000423613.2_Missense_Mutation_p.G1511S|TNC_ENST00000535648.1_Missense_Mutation_p.G1329S|TNC_ENST00000537320.1_Missense_Mutation_p.G1147S|TNC_ENST00000542877.1_Missense_Mutation_p.G1421S|TNC_ENST00000340094.3_Missense_Mutation_p.G1420S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1784	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.G1784S(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCTCAAAGCCCTTCATGGCG	0.502000													59	181					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197057403	197057403	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:197057403T>A	ENST00000367409.4	-	26	10400	c.10144A>T	c.(10144-10146)Aca>Tca	p.T3382S	ASPM_ENST00000367408.1_Missense_Mutation_p.T1047S|ASPM_ENST00000294732.7_Missense_Mutation_p.T1797S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3382					mitosis	cytoplasm|nucleus	calmodulin binding	p.T3382S(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTATTTGTTGTCTTCAGTAAA	0.333000													12	140					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430042	78430042	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:78430042C>A	ENST00000370767.1	-	11	925		c.e11-1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAATGGGGACCTTATGTAAAA	0.338000			"""F, N"""		oligodendroglioma								6	82					0.0293803	0.0302063	1	1	0
OR12D2	26529	broad.mit.edu	37	6	29364990	29364990	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:29364990A>C	ENST00000383555.2	+	1	575	c.514A>C	c.(514-516)Atc>Ctc	p.I172L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I172L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCCAACCGTATCCATCATTT	0.478000													36	551					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168812877	168812877	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:168812877A>T	ENST00000464456.1	-	11	3615	c.2415T>A	c.(2413-2415)aaT>aaA	p.N805K	MECOM_ENST00000472280.1_Missense_Mutation_p.N815K|MECOM_ENST00000392736.3_Missense_Mutation_p.N814K|MECOM_ENST00000468789.1_Missense_Mutation_p.N814K|MECOM_ENST00000460814.1_Missense_Mutation_p.N805K|MECOM_ENST00000433243.2_Missense_Mutation_p.N815K|MECOM_ENST00000264674.3_Missense_Mutation_p.N879K|MECOM_ENST00000494292.1_Missense_Mutation_p.N993K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.N814K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACATGTTCCCATTCTCATGTT	0.323000													8	77					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610279	10610279	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:10610279G>A	ENST00000171111.5	-	2	978	c.431C>T	c.(430-432)tCc>tTc	p.S144F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S144F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	144	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S144F(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGGAGATGGAGGCCGTGTA	0.587000													16	42					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58110122	58110122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:58110122G>T	ENST00000357272.4	+	22	3953	c.3788G>T	c.(3787-3789)gGt>gTt	p.G1263V	FLNB_ENST00000419752.2_Missense_Mutation_p.G1094V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1094V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1263V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1263V|FLNB_ENST00000348383.5_Missense_Mutation_p.G1263V|FLNB_ENST00000295956.4_Missense_Mutation_p.G1263V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1263V			O75369	FLNB_HUMAN	filamin B, beta	1263	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G1263V(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGGTTGGGGGTGACCACATC	0.572000													16	151					9.16793e-09	1.16766e-08	1	1	0
SEMA4A	64218	broad.mit.edu	37	1	156126349	156126349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:156126349C>G	ENST00000368285.3	+	3	551	c.284C>G	c.(283-285)cCc>cGc	p.P95R	SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P95R|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P95R|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	95	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.P95R(2)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGGGTCCCCAGGCTAAAG	0.567000													12	70					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86512537	86512537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:86512537G>T	ENST00000370571.2	-	12	2287	c.1921C>A	c.(1921-1923)Cgt>Agt	p.R641S	COL24A1_ENST00000436319.1_Missense_Mutation_p.R641S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	641			R -> H (in dbSNP:rs60891279).		cell adhesion	collagen	extracellular matrix structural constituent	p.R641S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ttctttccacggatcccagga	0.313000													16	78					7.45023e-12	1.04222e-11	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86089492	86089492	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:86089492G>T	ENST00000330753.4	+	2	2401	c.1634G>T	c.(1633-1635)gGc>gTc	p.G545V	FLRT2_ENST00000554746.1_Missense_Mutation_p.G545V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	545					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G545V(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGCTGGCGGGCTTGATCGGG	0.587000													24	86					3.80469e-20	6.2436e-20	1	1	0
ANGPTL1	9068	broad.mit.edu	37	1	178834573	178834573	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:178834573C>G	ENST00000234816.2	-	3	786	c.339G>C	c.(337-339)gtG>gtC	p.V113V	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Silent_p.V113V|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	113						extracellular space	receptor binding	p.V113V(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTACCTCATTCACAATGTTTC	0.438000													14	447					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165969467	165969467	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:165969467G>T	ENST00000360093.3	-	21	4262	c.3771C>A	c.(3769-3771)ctC>ctA	p.L1257L	SCN3A_ENST00000409101.3_Silent_p.L1208L|SCN3A_ENST00000283254.7_Silent_p.L1257L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1257						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1257L(2)|p.L1208L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAACCCATTTGAGAAGCATTT	0.323000													80	636					9.17388e-59	1.84922e-58	1	1	0
ALMS1P	200420	broad.mit.edu	37	2	73898278	73898278	+	RNA	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:73898278G>T	ENST00000450720.1	+	0	307					NR_003683.2																						ACACAAGCAGGTAATTACTTG	0.353000													49	292					2.34445e-45	4.51262e-45	1	1	0
FOXP3	50943	broad.mit.edu	37	X	49108150	49108150	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:49108150A>T	ENST00000376207.4	-	11	1308	c.1121T>A	c.(1120-1122)tTc>tAc	p.F374Y	FOXP3_ENST00000518685.1_Missense_Mutation_p.F339Y|FOXP3_ENST00000376199.2_Missense_Mutation_p.F339Y|FOXP3_ENST00000455775.2_Missense_Mutation_p.F347Y|FOXP3_ENST00000376197.1_Missense_Mutation_p.F324Y|FOXP3_ENST00000557224.1_Missense_Mutation_p.F339Y	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	374					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding	p.F374Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATGGTTTCTGAAGAAGGCAAA	0.587000													9	31					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107808728	107808728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:107808728C>A	ENST00000379028.3	-	29	3777	c.3307G>T	c.(3307-3309)Gca>Tca	p.A1103S	NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1103S|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.A1103S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1103	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.A1103S(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACTGCCTGCTACACCATAT	0.363000													6	48					3.09899e-07	3.65595e-07	1	1	0
TBX5	6910	broad.mit.edu	37	12	114804095	114804095	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:114804095T>A	ENST00000310346.4	-	8	1523	c.857A>T	c.(856-858)aAt>aTt	p.N286I	TBX5_ENST00000349716.5_Missense_Mutation_p.N236I|TBX5_ENST00000405440.2_Missense_Mutation_p.N286I|TBX5_ENST00000526441.1_Missense_Mutation_p.N286I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	286					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N286I(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGACCCCAAATTGGATGAGGT	0.577000													28	219					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232574993	232574993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:232574993C>A	ENST00000366630.1	-	14	4250	c.3892G>T	c.(3892-3894)Gct>Tct	p.A1298S	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A372S|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1298S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1298					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A1298S(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGCATCAGCCCACTGCTCG	0.662000													19	65					2.39556e-15	3.58634e-15	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135692319	135692319	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:135692319C>A	ENST00000513104.1	-	2	1039	c.757G>T	c.(757-759)Gcc>Tcc	p.A253S	TRPC7_ENST00000355180.3_Missense_Mutation_p.A253S|TRPC7_ENST00000426057.2_Missense_Mutation_p.A253S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	253					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.A253S(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAATGTTGGCTAGTCTGGCT	0.557000													4	50					0.217242	0.217242	1	1	0
TNR	7143	broad.mit.edu	37	1	175325510	175325510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:175325510C>A	ENST00000367674.1	-	16	3771	c.3063G>T	c.(3061-3063)atG>atT	p.M1021I	TNR_ENST00000263525.2_Missense_Mutation_p.M1021I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1021	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.M1021I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGGCATACATGGTGGCAG	0.507000													114	425					6.72517e-49	1.31423e-48	1	1	0
CEACAM7	1087	broad.mit.edu	37	19	42191009	42191009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:42191009C>A	ENST00000006724.3	-	2	409	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70W|CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70W|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70W	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACCCTTTCCCCTTTGTACCAG	0.438000													34	207					2.47316e-13	3.577e-13	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161221085	161221085	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:161221085G>T	ENST00000327928.4	+	4	789	c.789G>T	c.(787-789)ggG>ggT	p.G263G		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	263	Collagen-like 2.					collagen		p.G263G(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTATGAAAGGGGAAAAAGGTA	0.547000													4	13					0.150653	0.15184	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87031499	87031499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:87031499C>G	ENST00000265723.4	-	28	3885	c.3774G>C	c.(3772-3774)aaG>aaC	p.K1258N	ABCB4_ENST00000359206.3_Missense_Mutation_p.K1251N|ABCB4_ENST00000358400.3_Missense_Mutation_p.K1204N|ABCB4_ENST00000545634.1_Missense_Mutation_p.K1251N|ABCB4_ENST00000453593.1_Missense_Mutation_p.K1204N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1258	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.K1251N(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCCATGCTCCTTGACTCTCC	0.498000													33	301					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220652	118220652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:118220652C>A	ENST00000402510.2	-	11	4540	c.4541G>T	c.(4540-4542)aGg>aTg	p.R1514M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1514								p.R1514M(2)|p.R1338M(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTATGTCCCCTGCCTACAGA	0.502000													21	60					1.9806e-07	2.35829e-07	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26769422	26769422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:26769422C>T	ENST00000404234.3	+	14	2996	c.2800C>T	c.(2800-2802)Caa>Taa	p.Q934*	SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.Q707*|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.Q934*|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000529632.2_Intron	NM_001184773.1|NM_021115.4	NP_001171702.1|NP_066938.2	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	934						endoplasmic reticulum membrane|integral to membrane		p.Q934*(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTTAATCAAGACAGTTT	0.353000													6	74					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150656993	150656993	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:150656993G>T	ENST00000335230.3	-	10	1785	c.1374C>A	c.(1372-1374)atC>atA	p.I458I	SLC36A3_ENST00000377713.3_Silent_p.I499I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	458						integral to membrane		p.I458I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAATGGCTGATGGGTTGGG	0.478000													54	494					9.4991e-31	1.73698e-30	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75265706	75265706	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:75265706G>C	ENST00000325680.7	+	5	3830	c.3706G>C	c.(3706-3708)Gat>Cat	p.D1236H	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1041H	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1041					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.D1236H(1)|p.D1041H(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGACTATCAAGATGATACACT	0.468000													6	129					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75989204	75989204	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:75989204G>T	ENST00000274364.6	+	31	4227	c.3930G>T	c.(3928-3930)gtG>gtT	p.V1310V	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Silent_p.V806V|IQGAP2_ENST00000379730.3_Silent_p.V812V|IQGAP2_ENST00000396234.3_Silent_p.V806V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1310					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.V1310V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATTGATGTGATCCGGAACC	0.398000													4	54					0.014758	0.0152957	1	1	0
PAN2	9924	broad.mit.edu	37	12	56720127	56720127	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56720127C>T	ENST00000425394.2	-	8	1705	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	PAN2_ENST00000257931.5_Silent_p.A443A|PAN2_ENST00000440411.3_Silent_p.A443A|PAN2_ENST00000548043.1_Silent_p.A443A	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	443					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.A443A(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGGATTGGGCGCATAGCCAA	0.542000													4	32					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496207	9496207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:9496207C>A	ENST00000246070.2	+	2	664	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	LAMP5_ENST00000427562.2_Missense_Mutation_p.L58I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	58						integral to membrane		p.L58I(2)									GACGACGTGTCTCATGGCAGA	0.463000													12	110					6.72482e-11	9.10876e-11	1	1	0
NPNT	255743	broad.mit.edu	37	4	106863785	106863785	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:106863785G>C	ENST00000379987.2	+	8	1301	c.1085G>C	c.(1084-1086)aGt>aCt	p.S362T	NPNT_ENST00000453617.2_Missense_Mutation_p.S379T|NPNT_ENST00000427316.2_Missense_Mutation_p.S392T|NPNT_ENST00000305572.8_Missense_Mutation_p.S362T|NPNT_ENST00000514622.1_Missense_Mutation_p.S362T|NPNT_ENST00000506666.1_Missense_Mutation_p.S392T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	362	Pro-rich.				cell differentiation	membrane	calcium ion binding	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCAGCTGCCAGTACACCTCCA	0.512000													39	259					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130881250	130881250	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:130881250A>T	ENST00000383366.4	+	11	1255		c.e11-1		NEK11_ENST00000508196.1_Splice_Site|NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000412440.2_Splice_Site|NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000356918.4_Splice_Site|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000510769.1_Splice_Site	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGTTATTTATAGGCAAAAAAG	0.413000													43	218					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48818791	48818791	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:48818791G>T	ENST00000309835.3	+	2	1940		c.e2-1		STON1-GTF2A1L_ENST00000394754.1_Splice_Site|STON1_ENST00000406226.1_Splice_Site|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1_ENST00000404752.1_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site					stonin 1									p.?(4)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCCCTCGAGGTCTAGATCA	0.368000													22	99					1.36565e-18	2.15806e-18	1	1	0
KIF13B	23303	broad.mit.edu	37	8	29035078	29035078	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:29035078C>A	ENST00000524189.1	-	9	776	c.738G>T	c.(736-738)gtG>gtT	p.V246V	KIF13B_ENST00000521515.1_Silent_p.V246V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	246	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.V246V(4)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGAGTTTGCCCACTTTCTCTC	0.502000													48	324					5.0824e-10	6.77653e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9046706	9046706	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9046706G>T	ENST00000397910.4	-	5	35128	c.34925C>A	c.(34924-34926)aCt>aAt	p.T11642N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11644	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7275N(2)|p.T11642N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTACTAGTGTCTGTTGC	0.517000													111	720					7.99423e-63	1.62422e-62	1	1	0
RARS2	57038	broad.mit.edu	37	6	88228554	88228554	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:88228554T>A	ENST00000369536.5	-	15	1338	c.1293A>T	c.(1291-1293)gcA>gcT	p.A431A	RARS2_ENST00000497828.1_5'UTR	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	431					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.A431A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GAATAATGAGTGCTGCGAGCC	0.463000													20	110					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42287590	42287590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:42287590C>A	ENST00000342228.3	-	9	2070	c.1701G>T	c.(1699-1701)acG>acT	p.T567T	SLC20A2_ENST00000520262.1_Silent_p.T567T|SLC20A2_ENST00000520179.1_Silent_p.T567T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	567					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T567T(2)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCTGGACGGCGTGATGGGAG	0.607000													5	34					0.000602214	0.00065325	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167096659	167096659	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:167096659G>T	ENST00000361200.2	+	6	2457	c.2291G>T	c.(2290-2292)gGg>gTg	p.G764V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G764V|DUSP27_ENST00000271385.5_Missense_Mutation_p.G764V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	764					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G764V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTGCCTGGGGGATGACCAA	0.567000													15	147					9.16793e-09	1.16766e-08	1	1	0
TNXB	7148	broad.mit.edu	37	6	32052275	32052275	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:32052275C>A	ENST00000375244.3	-	8	3561	c.3360G>T	c.(3358-3360)ctG>ctT	p.L1120L	TNXB_ENST00000375247.2_Silent_p.L1120L			P22105	TENX_HUMAN	tenascin XB	1207	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L1207L(2)|p.L1120L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCAGGATCCAGGGAGGTGA	0.582000													8	53					0.00621372	0.00651931	1	1	0
UBR5	51366	broad.mit.edu	37	8	103266711	103266711	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:103266711G>A	ENST00000520539.1	-	59	8825	c.8219C>T	c.(8218-8220)cCa>cTa	p.P2740L	UBR5_ENST00000521922.1_Missense_Mutation_p.P2733L|UBR5_ENST00000518205.1_Missense_Mutation_p.P468L|UBR5_ENST00000220959.4_Missense_Mutation_p.P2739L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2740	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.P2740L(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACTGGCTGGCAGTGATGG	0.408000													20	109					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42191008	42191008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:42191008C>A	ENST00000006724.3	-	2	410	c.209G>T	c.(208-210)gGg>gTg	p.G70V	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70V|CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70V|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70V	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CACCCTTTCCCCTTTGTACCA	0.438000													33	200					2.68265e-12	3.79425e-12	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75650121	75650121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:75650121G>T	ENST00000361470.2	+	1	2076	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	600	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.E600*(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCCAAGGAGGCTGAGAT	0.502000													5	24					0.0215528	0.022248	1	1	0
RYR3	6263	broad.mit.edu	37	15	33945030	33945030	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:33945030C>A	ENST00000389232.4	+	32	4324	c.4254C>A	c.(4252-4254)gcC>gcA	p.A1418A	RYR3_ENST00000415757.3_Silent_p.A1418A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1418	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1418A(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGATCTGGCCATGGGCATGT	0.577000													27	140					1.30988e-24	2.28115e-24	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139737684	139737684	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:139737684C>A	ENST00000303045.6	-	24	2586		c.e24-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity	p.?(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGAGGGCCCTGTAGAGAAA	0.572000										HNSCC(7;0.00092)			10	35					1.08611e-07	1.30537e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9061615	9061615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9061615G>T	ENST00000397910.4	-	3	26034	c.25831C>A	c.(25831-25833)Cct>Act	p.P8611T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8613	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8611T(4)|p.P4244T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTTCAGGTTCTGAGCTT	0.483000													35	275					9.39024e-22	1.57118e-21	1	1	0
PRPF18	8559	broad.mit.edu	37	10	13655795	13655795	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:13655795C>T	ENST00000378572.3	+	7	794	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	212					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		p.R212C(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTATGTGAAACGCAGTGTGCA	0.453000													13	77					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134916303	134916303	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:134916303C>T	ENST00000607359.1	+	14	2518	c.2518C>T	c.(2518-2520)Ctg>Ttg	p.L840L	GPR123_ENST00000392607.3_Silent_p.L120L|GPR123_ENST00000392606.2_Silent_p.L23L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	120						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L120L(1)|p.L840L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCTCTGTGCCTGGACACAGA	0.627000													5	19					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739015	42739015	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:42739015G>T	ENST00000441594.1	-	7	1111	c.850C>A	c.(850-852)Cca>Aca	p.P284T	HHATL_ENST00000310417.5_Missense_Mutation_p.P284T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	284					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.P284T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCACTGTCTGGGAGGCGGTTG	0.617000													15	102					6.49762e-13	9.34489e-13	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81662148	81662148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:81662148G>T	ENST00000356860.3	-	12	1446	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q370K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	370	VWFA.					voltage-gated calcium channel complex	metal ion binding	p.Q370K(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATATCTCCTGGGCTCTCTCT	0.279000													20	121					6.12954e-19	9.80726e-19	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100787197	100787197	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:100787197C>T	ENST00000323346.5	+	4	837	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P175L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	175					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.P175L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGTTTATTCCCTCTGCAGCC	0.463000													38	243					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641424	142641424	+	Missense_Mutation	SNP	G	G	T	rs61729050		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:142641424G>T	ENST00000355265.2	-	13	1951	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	493					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q493K(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGTATTCTTGTCGGGCCAGC	0.522000													51	259					1.19403e-26	2.12273e-26	1	1	0
BCOR	54880	broad.mit.edu	37	X	39932097	39932097	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:39932097G>A	ENST00000342274.4	-	4	2864	c.2502C>T	c.(2500-2502)agC>agT	p.S834S	BCOR_ENST00000378455.4_Silent_p.S834S|BCOR_ENST00000397354.3_Silent_p.S834S|BCOR_ENST00000378444.4_Silent_p.S834S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	834					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.S834S(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGCTCAGCGCTCTGGCCAA	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	25					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841641	5841641	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:5841641C>A	ENST00000317037.2	+	1	98	c.76C>A	c.(76-78)Cac>Aac	p.H26N	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H26N(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCCACACACATCTGGAT	0.547000													26	231					1.30897e-18	2.08135e-18	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34677938	34677938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:34677938C>A	ENST00000488417.1	+	6	1772	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	C1orf94_ENST00000373374.3_Missense_Mutation_p.S361Y	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	361							protein binding	p.S551Y(2)|p.S361Y(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAAGATGTCTGCCAACCCC	0.567000													16	113					2.4624e-09	3.23268e-09	1	1	0
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:147796051C>T	ENST00000513335.1	-	8	893	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000325106.4_Missense_Mutation_p.E206K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448000													7	75					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237819276	237819276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:237819276T>A	ENST00000366574.2	+	53	8438	c.8121T>A	c.(8119-8121)gaT>gaA	p.D2707E	RYR2_ENST00000360064.6_Missense_Mutation_p.D2705E|RYR2_ENST00000542537.1_Missense_Mutation_p.D2691E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2707	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D2705E(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCTGTTGATACCTCAAAGT	0.358000													17	56					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137504237	137504237	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:137504237C>T	ENST00000230901.5	-	9	798	c.783G>A	c.(781-783)caG>caA	p.Q261Q	BRD8_ENST00000402931.1_Intron|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000254900.5_Intron|BRD8_ENST00000411594.2_Silent_p.Q261Q	NM_006696.3	NP_006687.3	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	214					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.Q261Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAGTTGCTTTCTGTCCAAGCA	0.557000													5	91					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228584677	228584677	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:228584677C>A	ENST00000493030.2	-	4	4164	c.455G>T	c.(454-456)gGa>gTa	p.G152V	TRIM11_ENST00000284551.6_Missense_Mutation_p.G277V|TRIM11_ENST00000366699.3_Missense_Mutation_p.G277V|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	277					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	p.G277V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CTCTACCAGTCCCGGGACCCT	0.637000													15	70					5.03518e-11	6.89309e-11	1	1	0
SOX6	55553	broad.mit.edu	37	11	15994629	15994629	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:15994629C>A	ENST00000352083.6	-	16	2290	c.2213G>T	c.(2212-2214)gGa>gTa	p.G738V	SOX6_ENST00000396356.3_Missense_Mutation_p.G718V|SOX6_ENST00000528252.1_Missense_Mutation_p.G711V|SOX6_ENST00000527619.1_Missense_Mutation_p.G714V|SOX6_ENST00000316399.6_Missense_Mutation_p.G718V|SOX6_ENST00000528429.1_Missense_Mutation_p.G738V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	738					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G718V(2)|p.G714V(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACACCTGTTCCTGTGGTGAT	0.468000													29	255					1.90571e-15	2.86977e-15	1	1	0
GRB10	2887	broad.mit.edu	37	7	50742267	50742267	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:50742267C>A	ENST00000403097.1	-	5	990	c.210G>T	c.(208-210)acG>acT	p.T70T	GRB10_ENST00000398812.2_Silent_p.T76T|GRB10_ENST00000398810.2_Silent_p.T18T|GRB10_ENST00000406641.1_Silent_p.T18T|GRB10_ENST00000402497.1_Silent_p.T18T|GRB10_ENST00000357271.5_Silent_p.T76T|GRB10_ENST00000407526.1_Silent_p.T18T|GRB10_ENST00000335866.3_Silent_p.T18T|GRB10_ENST00000401949.1_Silent_p.T76T|GRB10_ENST00000402578.1_Silent_p.T18T|GRB10_ENST00000439599.1_Silent_p.T70T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	76					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.T76T(2)|p.T70T(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGAGGGGCACCGTGTCTGACT	0.622000									Russell-Silver syndrome				6	74					1.26484e-09	1.66907e-09	1	1	0
DPP6	1804	broad.mit.edu	37	7	154379590	154379590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:154379590G>T	ENST00000406326.1	+	6	1261	c.858G>T	c.(856-858)tgG>tgT	p.W286C	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.W286C(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATATTCCATGGAGACCCTGGC	0.577000													24	235					1.2476e-16	1.9011e-16	1	1	0
IL16	3603	broad.mit.edu	37	15	81592014	81592014	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:81592014C>A	ENST00000394660.2	+	14	2707	c.2347C>A	c.(2347-2349)Cct>Act	p.P783T	IL16_ENST00000394652.2_Missense_Mutation_p.P82T|IL16_ENST00000302987.4_Missense_Mutation_p.P783T|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAGAAAGGTCCTCCTGTGGC	0.567000													9	77					0.00010058	0.000112439	1	1	0
ZNF777	27153	broad.mit.edu	37	7	149153030	149153030	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:149153030G>A	ENST00000247930.4	-	2	407	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P28P(2)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTTTCTCGGGGGAGTCCAG	0.547000													4	30					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862361	8862361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:8862361G>T	ENST00000338037.6	+	32	3543	c.3516G>T	c.(3514-3516)aaG>aaT	p.K1172N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1172					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.K1172N(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAAAGGAAAGATCAGTGAAG	0.517000													87	434					8.45761e-33	1.56895e-32	1	1	0
KIAA1024	23251	broad.mit.edu	37	15	79750731	79750731	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:79750731G>A	ENST00000305428.3	+	2	2317	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	748						integral to membrane		p.E748K(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATGAGGAGGAGATAAAAGA	0.468000													17	107					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352502	20352502	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:20352502C>G	ENST00000396134.2	-	8	1710	c.1587G>C	c.(1585-1587)ctG>ctC	p.L529L	UMOD_ENST00000302509.4_Silent_p.L496L|UMOD_ENST00000570689.1_Silent_p.L496L|UMOD_ENST00000396142.2_Silent_p.L496L|UMOD_ENST00000396138.4_Silent_p.L545L|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Silent_p.L529L	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	496	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.L496L(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAAATCGGGACAGGTCGCCCC	0.567000													11	91					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79265681	79265681	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:79265681C>T	ENST00000419573.3	-	26	3898	c.3624G>A	c.(3622-3624)acG>acA	p.T1208T	RASGRF1_ENST00000558480.2_Silent_p.T1192T|RASGRF1_ENST00000394745.3_Silent_p.T424T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1210	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.T1208T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCGTCTTCCGTGTAATTGG	0.602000													6	137					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287633	62287633	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:62287633G>A	ENST00000378024.4	-	5	14530	c.14256C>T	c.(14254-14256)ggC>ggT	p.G4752G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4752					nervous system development	nucleus	protein binding	p.G4752G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTCTGGGCCCTTGAGGT	0.507000													46	369					0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141900397	141900397	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:141900397T>C	ENST00000392993.2	-	11	1105	c.954A>G	c.(952-954)ccA>ccG	p.P318P		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	318					glycerol metabolic process		ATP binding|glycerol kinase activity	p.P318P(2)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACCCAATTAATGGATAAAAGC	0.363000													16	117					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152949423	152949423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:152949423G>T	ENST00000367255.5	-	3	645	c.44C>A	c.(43-45)gCc>gAc	p.A15D	SYNE1_ENST00000367253.4_Missense_Mutation_p.A15D|SYNE1_ENST00000466159.2_Missense_Mutation_p.A15D|SYNE1_ENST00000413186.2_Missense_Mutation_p.A15D|SYNE1_ENST00000367248.3_Missense_Mutation_p.A15D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A15D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A15D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A15D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A15D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	15	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A15D(6)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCACATTGGCGATATCCCG	0.498000										HNSCC(10;0.0054)			21	155					5.61819e-17	8.66419e-17	1	1	0
BEND4	389206	broad.mit.edu	37	4	42127651	42127651	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:42127651C>T	ENST00000502486.1	-	4	1674	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	BEND4_ENST00000504360.1_Silent_p.L361L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	365								p.L361L(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTGGTGCTGCAGAACCATCT	0.443000													22	226					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462																											ACAACTGGGCCAAGGGACGCT	0.577000													5	18					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787146	100787146	+	Splice_Site	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:100787146G>A	ENST00000323346.5	+	4	786		c.e4-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.?(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGTCCCCCAGGGTCTTTGGA	0.473000													16	132					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921890	78921890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:78921890C>A	ENST00000261751.3	-	5	868	c.757G>T	c.(757-759)Gtc>Ttc	p.V253F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	253					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V253F(2)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGTAGAAGACGAGGATGGCC	0.552000													62	343					2.165e-29	3.9031e-29	1	1	0
OR10W1	81341	broad.mit.edu	37	11	58035114	58035114	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:58035114G>T	ENST00000395079.2	-	1	618	c.217C>A	c.(217-219)Ctg>Atg	p.L73M		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L73M(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GTGTTGGCCAGGATATGGGGC	0.507000													49	244					1.39843e-22	2.38665e-22	1	1	0
MARK1	4139	broad.mit.edu	37	1	220835506	220835506	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:220835506T>G	ENST00000402574.1	+	17	2938	c.1936T>G	c.(1936-1938)Taa>Gaa	p.*646E	MARK1_ENST00000366917.4_Nonstop_Mutation_p.*796E|MARK1_ENST00000366918.4_Nonstop_Mutation_p.*759E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	0					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.*796E(3)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCTTAAGCTGTAAAGAAGTCC	0.393000													11	81					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62926160	62926160	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:62926160T>A	ENST00000253401.6	-	3	1159	c.359A>T	c.(358-360)aAg>aTg	p.K120M	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K118M|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K67M|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K18M|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K99M|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	120	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.K118M(2)|p.K120M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTTGAGGTGCTTGATGTAGTG	0.537000													17	101					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551067	248551067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248551067C>A	ENST00000355728.2	+	1	158	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P53H(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACATAGACCCTCATCTCCAC	0.458000													31	81					2.81731e-10	3.77609e-10	1	1	0
S1PR3	1903	broad.mit.edu	37	9	91617197	91617197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:91617197C>A	ENST00000375846.3	+	1	5777	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	S1PR3_ENST00000358157.2_Nonsense_Mutation_p.S361*			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	361					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.S361*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACAGCCCCCTCATCCTGCATC	0.537000													22	62					7.41945e-09	9.54462e-09	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26690378	26690378	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:26690378G>T	ENST00000529632.2	+	3	1152	c.956G>T	c.(955-957)gGg>gTg	p.G319V	SEZ6L_ENST00000404234.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G92V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G92V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G319V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G319V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	319	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.G319V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGGCTATGGGGTGGAGCTC	0.537000													56	483					2.92363e-43	5.58545e-43	1	1	0
CD1D	912	broad.mit.edu	37	1	158152847	158152847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158152847C>A	ENST00000368171.3	+	5	1286	c.787C>A	c.(787-789)Ctc>Atc	p.L263I		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	263	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.L263I(2)|p.L263F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACATGGTATCTCCGAGCAAC	0.617000													64	310					5.05157e-50	9.94771e-50	1	1	0
HLA-DPB1	3115	broad.mit.edu	37	6	33053644	33053644	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:33053644C>T	ENST00000418931.2	+	4	851	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	245					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		p.F245F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGGGCATCTTCATGCACAGGA	0.552000													7	162					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136265	40136265	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:40136265G>T	ENST00000278198.2	-	2	3541	c.1578C>A	c.(1576-1578)acC>acA	p.T526T	LRRC4C_ENST00000527150.1_Silent_p.T526T|LRRC4C_ENST00000528697.1_Silent_p.T526T|LRRC4C_ENST00000530763.1_Silent_p.T526T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	526					regulation of axonogenesis	integral to membrane	protein binding	p.T526T(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGATGATTTTGGTAGTCTTCA	0.468000													33	184					3.62531e-18	5.62472e-18	1	1	0
SACS	26278	broad.mit.edu	37	13	23915491	23915491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:23915491C>A	ENST00000382298.3	-	10	3112	c.2524G>T	c.(2524-2526)Gac>Tac	p.D842Y	SACS_ENST00000402364.1_Missense_Mutation_p.D92Y|SACS_ENST00000382292.3_Missense_Mutation_p.D842Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.D695Y(2)|p.D842Y(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTACAATGTCTGCTAAAAAT	0.363000													10	56					1.08611e-07	1.30537e-07	1	1	0
NIT1	4817	broad.mit.edu	37	1	161088936	161088936	+	Missense_Mutation	SNP	G	G	T	rs144963228	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:161088936G>T	ENST00000368008.1	+	3	170	c.111G>T	c.(109-111)atG>atT	p.M37I	NIT1_ENST00000392190.5_Start_Codon_SNP_p.M1I|NIT1_ENST00000368007.4_Missense_Mutation_p.M22I|NIT1_ENST00000368009.2_Missense_Mutation_p.M37I|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	37					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGAGCCATGGCTATCTCCT	0.517000													12	98					3.27435e-08	4.03708e-08	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167164213	167164213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:167164213G>T	ENST00000476257.1	-	9	1406	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T	SERPINI2_ENST00000471111.1_Missense_Mutation_p.P370T|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P370T|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P370T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	370					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P370T(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AACAGAAATGGATGATTTGCT	0.333000													8	118					4.68919e-08	5.7437e-08	1	1	0
NALCN	259232	broad.mit.edu	37	13	101755531	101755531	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:101755531T>A	ENST00000251127.6	-	26	3130	c.3049A>T	c.(3049-3051)Att>Ttt	p.I1017F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1017						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I1017F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAAAAAAATTTCCTTGAAG	0.438000													19	166					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67662413	67662413	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:67662413G>T	ENST00000264010.4	+	9	2103	c.1659G>T	c.(1657-1659)gcG>gcT	p.A553A	CTCF_ENST00000401394.1_Silent_p.A225A	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	553					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.A553A(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCGTCCCTGCGGCTTTTGTCT	0.483000													43	337					6.31075e-24	1.09159e-23	1	1	0
PLGLA	285189	broad.mit.edu	37	2	107004078	107004078	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:107004078C>A	ENST00000484422.1	+	0	167																											AGAAGTCCTCCATAATCATTA	0.398000													105	838					6.34794e-51	1.25975e-50	1	1	0
IL16	3603	broad.mit.edu	37	15	81592015	81592015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:81592015C>A	ENST00000394660.2	+	14	2708	c.2348C>A	c.(2347-2349)cCt>cAt	p.P783H	IL16_ENST00000394652.2_Missense_Mutation_p.P82H|IL16_ENST00000302987.4_Missense_Mutation_p.P783H|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGAAAGGTCCTCCTGTGGCT	0.567000													9	77					6.40141e-05	7.21921e-05	1	1	0
SEPT10	151011	broad.mit.edu	37	2	110301779	110301779	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:110301779A>C	ENST00000356688.4	-	12	1870	c.1555T>G	c.(1555-1557)Ttt>Gtt	p.F519V	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338000													6	7					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:99640640C>A	ENST00000547776.2	-	13	1758	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167Y|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587Y|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473000													49	443					2.13883e-14	3.14678e-14	1	1	0
C11orf68	83638	broad.mit.edu	37	11	65685409	65685409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:65685409C>A	ENST00000438576.2	-	2	488	c.403G>T	c.(403-405)Gtg>Ttg	p.V135L	C11orf68_ENST00000449692.3_Missense_Mutation_p.V134L|C11orf68_ENST00000530188.1_Missense_Mutation_p.V93L			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	93								p.V135L(2)|p.V93L(2)		large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		AGGCCCTGCACGTCCCCGGAG	0.657000													4	17					0.014758	0.0152957	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342384	58342384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:58342384C>A	ENST00000371015.1	+	5	1152	c.685C>A	c.(685-687)Ccc>Acc	p.P229T	PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P188T|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P188T|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P226T|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P188T	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	229	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGGCCAGCTCCCCAGCCCCCC	0.607000													22	126					2.4375e-19	3.92452e-19	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44028081	44028081	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:44028081C>T	ENST00000262726.7	-	19	2389	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	EFCAB6_ENST00000396231.2_Silent_p.Q560Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.Q712Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGTTGGAGGCTGCGGCGGAG	0.483000													23	115					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888839	141888839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:141888839C>A	ENST00000420921.2	-	3	338	c.250G>T	c.(250-252)Gca>Tca	p.A84S	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000515673.1_Missense_Mutation_p.A225S|RNF150_ENST00000507500.1_Missense_Mutation_p.A225S|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.A84S			Q9ULK6	RN150_HUMAN	ring finger protein 150	225	PA.					integral to membrane	zinc ion binding	p.A225S(2)|p.A134S(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACGAGCCATGCGAGGGAAATG	0.423000													50	308					5.22555e-25	9.16261e-25	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089295	9089295	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9089295G>T	ENST00000397910.4	-	1	2723	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	840	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L840L(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACACTTGGGAGGCTGAGAG	0.468000													107	553					1.07149e-41	2.03187e-41	1	1	0
HLA-C	3107	broad.mit.edu	37	6	31238853	31238853	+	Missense_Mutation	SNP	C	C	T	rs17849598		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:31238853C>T	ENST00000383329.3	-	3	630	c.616G>A	c.(616-618)Gca>Aca	p.A206T	HLA-C_ENST00000376228.5_Missense_Mutation_p.A206T			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	206	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGTACCTGCGCGCTGCAGC	0.647000													5	64					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240206	126240206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:126240206C>A	ENST00000394329.3	+	1	2653	c.2640C>A	c.(2638-2640)aaC>aaA	p.N880K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	880	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N880K(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTATGGTTAACATAACAGTTA	0.448000													14	68					6.31663e-08	7.66377e-08	1	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36250716	36250716	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:36250716G>T	ENST00000315571.5	+	6	828	c.807G>T	c.(805-807)gcG>gcT	p.A269A	LDLRAD3_ENST00000528989.1_Silent_p.A220A|LDLRAD3_ENST00000524419.1_Silent_p.A259A	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	269						integral to membrane	receptor activity	p.A269A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACAGGCCTGCGTGGTATGACC	0.592000													20	217					5.35356e-11	7.28995e-11	1	1	0
CTCF	10664	broad.mit.edu	37	16	67663408	67663408	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:67663408C>T	ENST00000264010.4	+	10	2253	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	CTCF_ENST00000401394.1_Silent_p.R275R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	603					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R603R(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAAGATGCGCTCTAAGAAAG	0.448000													19	146					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84606415	84606415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:84606415C>T	ENST00000262753.4	-	5	626	c.481G>A	c.(481-483)Gga>Aga	p.G161R	POF1B_ENST00000373145.3_Missense_Mutation_p.G161R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	161							actin binding	p.G161R(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACATTGTTTCCTGGGAAGAAA	0.284000													12	98					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146525	111146525	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:111146525G>A	ENST00000485317.1	-	3	1553	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	KCNA2_ENST00000316361.4_Missense_Mutation_p.R294C|KCNA2_ENST00000369770.3_Missense_Mutation_p.R294C|KCNA2_ENST00000440270.1_Missense_Mutation_p.R294C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	294						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R294C(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CGGATGACACGGAGGATGGCC	0.537000													19	112					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49357467	49357467	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:49357467G>T	ENST00000225298.7	+	8	1170		c.e8+1			NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)						rRNA processing	nucleolus		p.?(2)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AGCAATGAAGGTAAAGCATTA	0.413000													5	38					0.00307968	0.00325784	1	1	0
IKBKB	3551	broad.mit.edu	37	8	42178306	42178306	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:42178306T>C	ENST00000520810.1	+	16	1818	c.1632T>C	c.(1630-1632)atT>atC	p.I544I	IKBKB_ENST00000416505.2_Silent_p.I485I|IKBKB_ENST00000379708.3_Silent_p.I321I|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.I542I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	544					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.I544I(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGACCGACATTGTGGACTTAC	0.572000													11	236					0	0	1	0	0
GLIPR2	152007	broad.mit.edu	37	9	36162380	36162380	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:36162380G>T	ENST00000377960.4	+	5	360	c.326G>T	c.(325-327)tGg>tTg	p.W109L	GLIPR2_ENST00000377959.1_Missense_Mutation_p.W83L|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	109				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane		p.W109L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GCCATGGTATGGAAGAACACC	0.567000													63	309					1.49723e-40	2.81832e-40	1	1	0
LPPR5	163404	broad.mit.edu	37	1	99418685	99418685	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:99418685G>T	ENST00000370188.3	-	3	922	c.562C>A	c.(562-564)Cga>Aga	p.R188R	LPPR5_ENST00000263177.4_Silent_p.R188R	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		188						integral to membrane	hydrolase activity	p.R188R(2)									AAGGTTTTTCGGGCTCTCATG	0.423000													32	178					3.6622e-26	6.46568e-26	1	1	0
RBMS2	5939	broad.mit.edu	37	12	56963712	56963712	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56963712T>C	ENST00000262031.5	+	4	417	c.322T>C	c.(322-324)Tca>Cca	p.S108P	RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.S108P|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	108	RRM 1.				RNA processing	nucleus	nucleotide binding|RNA binding	p.S108P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGACAGCCCTTCAGCAGCACA	0.512000													36	191					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072726	35072726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:35072726G>T	ENST00000382002.5	-	6	920	c.494C>A	c.(493-495)aCg>aAg	p.T165K	PRLR_ENST00000513753.1_Missense_Mutation_p.T165K|PRLR_ENST00000511486.1_Missense_Mutation_p.T64K|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.T94K|PRLR_ENST00000231423.3_Missense_Mutation_p.T165K|PRLR_ENST00000542609.1_Missense_Mutation_p.T165K|PRLR_ENST00000342362.5_Missense_Mutation_p.T64K|PRLR_ENST00000310101.5_Missense_Mutation_p.T165K|PRLR_ENST00000348262.3_Missense_Mutation_p.T165K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	165	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T165K(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATACAGGAGCGTGAACCAACC	0.448000													32	188					1.836e-18	2.88354e-18	1	1	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													3	7					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11656186	11656186	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:11656186T>A	ENST00000262442.3	+	33	6715	c.6647T>A	c.(6646-6648)aTc>aAc	p.I2216N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2216N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2216	AAA 2 (By similarity).			I -> T (in Ref. 4; BAA21573).	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2216N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTGCCAACATCACCCATGAT	0.413000													21	157					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531692	140531692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:140531692C>A	ENST00000231136.1	+	1	1854	c.1854C>A	c.(1852-1854)caC>caA	p.H618Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H482Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H618Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGGCGCACAATGGCGAGG	0.682000													9	102					0.000566183	0.000616778	1	1	0
LPA	4018	broad.mit.edu	37	6	161022092	161022092	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:161022092A>G	ENST00000447678.1	-	20	3104	c.2984T>C	c.(2983-2985)gTg>gCg	p.V995A	LPA_ENST00000316300.5_Missense_Mutation_p.V995A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3503	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.V995A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGGGGCTGCCACAGGATCTGG	0.473000													19	220					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54964098	54964098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:54964098C>A	ENST00000375006.3	-	11	1228	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E186D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E321D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	386	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.E386D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGTACATTCTCCTGTCGTT	0.483000													24	164					3.01185e-09	3.89411e-09	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126137133	126137133	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:126137133C>A	ENST00000299308.3	+	8	2054	c.2046C>A	c.(2044-2046)atC>atA	p.I682I	TMEM132B_ENST00000535886.1_Silent_p.I194I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	682						integral to membrane		p.I682I(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGGGCCATCGTCTCCACAG	0.607000													25	185					1.71298e-08	2.16021e-08	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33488394	33488394	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:33488394T>A	ENST00000404816.2	+	15	2905	c.2552T>A	c.(2551-2553)gTt>gAt	p.V851D	LTBP1_ENST00000407925.1_Missense_Mutation_p.V525D|LTBP1_ENST00000418533.2_Missense_Mutation_p.V525D|LTBP1_ENST00000404525.1_Missense_Mutation_p.V472D|LTBP1_ENST00000354476.3_Missense_Mutation_p.V852D|LTBP1_ENST00000390003.4_Missense_Mutation_p.V526D|LTBP1_ENST00000402934.1_Missense_Mutation_p.V472D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	851					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.V852D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTGTGCCTGTTGAAGTAGCT	0.403000													20	146					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86672763	86672763	+	Silent	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:86672763A>T	ENST00000456692.2	+	17	1834	c.1719A>T	c.(1717-1719)acA>acT	p.T573T	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Silent_p.T583T|RASA1_ENST00000506290.1_Silent_p.T584T|RASA1_ENST00000274376.6_Silent_p.T750T	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	750	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.T750T(2)|p.T573T(2)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGACCGAACACTACTGGCCA	0.368000													24	289					0	0	1	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519214	137519214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:137519214G>A	ENST00000367739.4	-	7	1545	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	IFNGR1_ENST00000543628.1_Missense_Mutation_p.S447F	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	475					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	p.S475F(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACCAATCAAGGACTCTTTACC	0.413000													13	163					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106235600	106235600	+	RNA	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:106235600T>A	ENST00000390551.2	-	0	1106																											AGGGAGAGGCTCTTCTGCGTG	0.632000													14	166					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24503644	24503644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:24503644G>C	ENST00000357578.3	+	3	737	c.592G>C	c.(592-594)Gct>Cct	p.A198P	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A110P|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A198P|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A170P	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	198					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.A198P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CATAGGCGTGGCTGCAGTCAT	0.567000													11	91					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826463	13826463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr18:13826463C>A	ENST00000324750.3	+	1	921	c.699C>A	c.(697-699)agC>agA	p.S233R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	233				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.S233R(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGAGGACCAGCATGCAGGGCG	0.612000													6	56					0.00116845	0.00124117	1	1	0
FZD3	7976	broad.mit.edu	37	8	28385432	28385432	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:28385432T>A	ENST00000240093.3	+	5	1633	c.1155T>A	c.(1153-1155)gtT>gtA	p.V385V	FZD3_ENST00000537916.1_Silent_p.V385V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	385					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.V385V(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGTGGTAGTTGGGGTTTCTC	0.398000													27	184					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18881188	18881188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:18881188G>C	ENST00000446231.2	-	19	3033	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	SMG1_ENST00000389467.3_Missense_Mutation_p.S874C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	874	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S870C(2)|p.S874C(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTCTATGAGAGTTCCCATA	0.318000													4	45					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176423	57176423	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:57176423C>A	ENST00000537055.2	-	2	375	c.144G>T	c.(142-144)ggG>ggT	p.G48G		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.G70G(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCATGCTGTCCCCAGCAGGGT	0.592000													6	44					0.000442599	0.000486289	1	1	0
RALA	5898	broad.mit.edu	37	7	39730128	39730128	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:39730128G>T	ENST00000005257.2	+	3	642	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	88					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	p.G88W(2)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AAGTGGGGAGGGGTTCCTCTG	0.458000													24	128					2.4375e-19	3.92452e-19	1	1	0
LCN2	3934	broad.mit.edu	37	9	130911883	130911883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:130911883C>A	ENST00000540948.1	+	1	152	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	LCN2_ENST00000373013.2_Missense_Mutation_p.L27M|LCN2_ENST00000373017.1_Missense_Mutation_p.L27M|LCN2_ENST00000372998.1_Missense_Mutation_p.L27M|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.L27M			P80188	NGAL_HUMAN	lipocalin 2	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.L27M(2)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CACCTCAGACCTGATCCCAGC	0.642000													4	24					0.00024832	0.000274008	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32187987	32187987	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:32187987G>A	ENST00000375023.3	-	7	1372	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	412	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L412F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCCTGTGAGGGGGTTGGTG	0.627000													14	149					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55439661	55439661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:55439661T>A	ENST00000341048.4	-	7	730	c.579A>T	c.(577-579)aaA>aaT	p.K193N	ANKRD55_ENST00000513241.2_Missense_Mutation_p.K164N|ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	192								p.K193N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTTTAAAGTCTTTATCCACAA	0.502000													74	356					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123920082	123920082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:123920082G>T	ENST00000373855.1	+	29	4821	c.4561G>T	c.(4561-4563)Gaa>Taa	p.E1521*	CNTRL_ENST00000373847.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.E1521*			Q7Z7A1	CNTRL_HUMAN	centriolin	1521					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.E1521*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AATCTTGAAAGAAATAAACAA	0.408000													20	90					6.33239e-15	9.37047e-15	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78772069	78772069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:78772069G>A	ENST00000545128.1	+	11	1959	c.1421G>A	c.(1420-1422)cGa>cAa	p.R474Q	PCSK5_ENST00000376752.4_Missense_Mutation_p.R474Q|PCSK5_ENST00000376767.3_Missense_Mutation_p.R474Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	474	Homo B/P.				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	p.R474Q(3)		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						AGCACAGACCGACAAATCAAG	0.517000													8	201					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616371	248616371	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248616371G>T	ENST00000342927.3	+	1	295	c.273G>T	c.(271-273)aaG>aaT	p.K91N		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K91N(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAAGGACAAGACCATTTCCT	0.522000													74	626					4.08981e-53	8.17963e-53	1	1	0
PAPLN	89932	broad.mit.edu	37	14	73725989	73725989	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:73725989A>G	ENST00000427855.1	+	16	1823	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	PAPLN_ENST00000381166.3_Missense_Mutation_p.Q574R|PAPLN_ENST00000340738.5_Missense_Mutation_p.Q547R|PAPLN_ENST00000554301.1_Missense_Mutation_p.Q574R|PAPLN_ENST00000555445.1_Missense_Mutation_p.Q574R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	574						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.Q547R(2)|p.Q574R(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCAGAGGCCAGTGGTGGGCA	0.647000													5	96					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823356	70823356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:70823356G>C	ENST00000353151.3	-	5	322	c.311C>G	c.(310-312)gCt>gGt	p.A104G		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	104					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	p.A104G(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGTGTCTTTAGCTTTAGGGAC	0.463000													30	297					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31249876	31249876	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:31249876G>T	ENST00000407793.2	+	17	1965	c.1714G>T	c.(1714-1716)Gct>Tct	p.A572S	DDX11_ENST00000542838.1_Missense_Mutation_p.A572S|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.A572S|DDX11_ENST00000228264.6_Missense_Mutation_p.A546S|DDX11_ENST00000545668.1_Missense_Mutation_p.A572S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	572					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.A572S(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTCCTGGCAGCTCTCACTAC	0.602000										Multiple Myeloma(12;0.14)			3	30					0.00116845	0.00124117	1	1	0
ZIC3	7547	broad.mit.edu	37	X	136649500	136649500	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:136649500C>G	ENST00000287538.5	+	1	1200	c.650C>G	c.(649-651)cCt>cGt	p.P217R	ZIC3_ENST00000370606.3_Missense_Mutation_p.P217R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	217			P -> A (in a patient with atrial septal defect and pulmonic stenosis not associated with heterotaxy; lacks DNA- binding; does not inhibit transcriptional activation and interaction with GLI3).		cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P217R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTTCCTAACTACAGC	0.662000													7	25					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132563	91132563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:91132563G>T	ENST00000373094.1	+	2	2169	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	PCDH11X_ENST00000361724.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G442C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G442C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	442	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.G442C(6)|p.G442R(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGATGCTGGCAAACCTCC	0.408000													19	75					2.54651e-27	4.55878e-27	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158724748	158724748	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158724748C>A	ENST00000368144.2	+	1	239	c.143C>A	c.(142-144)gCg>gAg	p.A48E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A48E(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTCCCGCATGCGCACAGAGGT	0.453000													55	416					1.93748e-29	3.51769e-29	1	1	0
TAF4	6874	broad.mit.edu	37	20	60575248	60575248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:60575248G>A	ENST00000252996.3	-	11	2718	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	907					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.Q907*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGCCTTTGTTGCGTGGCATGT	0.373000													24	130					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285781	130285781	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:130285781C>A	ENST00000358511.6	+	4	1549	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	COL6A6_ENST00000453409.2_Silent_p.I506I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	506	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.I506I(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGAGAATATCAGGCAGATGG	0.473000													30	156					8.16721e-17	1.25198e-16	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1581080	1581080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:1581080G>T	ENST00000421627.2	+	5	1572	c.1438G>T	c.(1438-1440)Gac>Tac	p.D480Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	559					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.D502Y(2)|p.D524Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGATGCCCTCGACCTCCCGGG	0.537000													8	114					0.000157383	0.000174416	1	1	0
SCN3B	55800	broad.mit.edu	37	11	123508905	123508905	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:123508905G>T	ENST00000392770.2	-	4	1375	c.573C>A	c.(571-573)gcC>gcA	p.A191A	SCN3B_ENST00000530277.1_Silent_p.A191A|SCN3B_ENST00000299333.3_Silent_p.A191A	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	191					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.A191A(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CGTTTTCTTGGGCTGCCTCTT	0.448000													12	66					2.27111e-07	2.69169e-07	1	1	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													5	48					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843212	57843212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:57843212G>T	ENST00000309668.2	+	2	593	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C	INHBC_ENST00000550133.1_Missense_Mutation_p.G156C	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	156					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.G156C(2)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTTGTGCTGGGTCCACATAA	0.552000													74	495					4.65891e-64	9.54144e-64	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155306968	155306968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:155306968C>A	ENST00000392825.3	+	13	2143	c.1576C>A	c.(1576-1578)Cct>Act	p.P526T	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	526	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P526T(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTCGATGAACCTTCTGAAGA	0.438000													30	269					9.65963e-10	1.28128e-09	1	1	0
SLC26A9	115019	broad.mit.edu	37	1	205897047	205897047	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:205897047C>T	ENST00000367135.3	-	9	1197	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	SLC26A9_ENST00000340781.4_Missense_Mutation_p.D362N|SLC26A9_ENST00000367134.2_Missense_Mutation_p.D362N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	362						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.D362N(4)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAATCCACGTCGTAGCCGTGC	0.587000													30	198					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79978240	79978240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:79978240C>A	ENST00000373275.4	-	17	1913	c.1697G>T	c.(1696-1698)cGt>cTt	p.R566L		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	566								p.R566L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTGGCATCACGAATAAGAGG	0.393000													16	142					4.96729e-08	6.05536e-08	1	1	0
NUP210	23225	broad.mit.edu	37	3	13427851	13427851	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:13427851C>A	ENST00000254508.5	-	6	823	c.741G>T	c.(739-741)ccG>ccT	p.P247P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	247					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P247P(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGTCATAGGCCGGGTTCAGAA	0.493000													10	70					0.000673444	0.000724377	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106821053	106821053	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:106821053A>T	ENST00000228347.4	+	13	1402	c.1180A>T	c.(1180-1182)Aag>Tag	p.K394*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.K336*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	394					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.K394*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGATTCCTAAGCAAAGAGC	0.363000													36	221					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204375279	204375279	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:204375279T>C	ENST00000367188.4	-	2	2462	c.2083A>G	c.(2083-2085)Atg>Gtg	p.M695V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	695					regulation of translation			p.M695V(2)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTATTAAACATTCTTTCTCTG	0.403000													135	425					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248020633	248020633	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248020633G>A	ENST00000366481.3	+	1	133	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	29						intracellular	zinc ion binding	p.V29M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCGGTCAGCGTGGACTGCGG	0.726000													3	8					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948533	145948533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:145948533C>A	ENST00000292562.7	-	5	787	c.512G>T	c.(511-513)gGc>gTc	p.G171V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G128V(2)|p.G171V(2)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTTTCCCTGCCCACGGTAGC	0.433000													24	167					1.32003e-05	1.51537e-05	1	1	0
PCBP2	5094	broad.mit.edu	37	12	53853102	53853102	+	Missense_Mutation	SNP	C	C	T	rs111807426		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:53853102C>T	ENST00000603815.1	+	6	640	c.290C>T	c.(289-291)cCg>cTg	p.P97L	RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Missense_Mutation_p.P97L|PCBP2_ENST00000541275.1_Missense_Mutation_p.P97L|PCBP2_ENST00000455667.3_Missense_Mutation_p.P97L|PCBP2_ENST00000439930.3_Missense_Mutation_p.P97L|PCBP2_ENST00000437231.1_Missense_Mutation_p.P97L|PCBP2_ENST00000359462.5_Missense_Mutation_p.P97L|PCBP2_ENST00000552819.1_Missense_Mutation_p.P97L|PCBP2_ENST00000552296.2_Missense_Mutation_p.P97L|PCBP2_ENST00000359282.5_Missense_Mutation_p.P97L|PCBP2_ENST00000549863.1_Missense_Mutation_p.P97L|PCBP2_ENST00000447282.1_Missense_Mutation_p.P97L|PCBP2_ENST00000548933.1_Missense_Mutation_p.P97L	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	97	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.P97L(2)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGTAGACCCCCGGTCACCCTG	0.488000													20	132					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449602	149449602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:149449602C>A	ENST00000286301.3	-	10	1635	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	448	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Q448H(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATCCCAGACCTGCAGCACTT	0.587000													29	136					3.28013e-08	4.03708e-08	1	1	0
MUC4	4585	broad.mit.edu	37	3	195511822	195511822	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:195511822G>T	ENST00000463781.3	-	2	7088	c.6629C>A	c.(6628-6630)cCt>cAt	p.P2210H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2210H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	999					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.P2210H(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.597000													4	6					0.217242	0.217242	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690667	77690667	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:77690667A>T	ENST00000521891.2	+	4	3765	c.3317A>T	c.(3316-3318)aAt>aTt	p.N1106I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N1080I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N1080I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N1080I|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1080						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1106I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCACCAAATGAGCTTGGT	0.532000										HNSCC(33;0.089)			41	215					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35608274	35608274	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:35608274C>G	ENST00000287272.2	+	12	1923	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	UNC5D_ENST00000404895.2_Missense_Mutation_p.L704V|UNC5D_ENST00000449677.1_Missense_Mutation_p.L280V|UNC5D_ENST00000453357.2_Missense_Mutation_p.L699V|UNC5D_ENST00000416672.1_Missense_Mutation_p.L709V|UNC5D_ENST00000420357.1_Missense_Mutation_p.L637V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	704	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.L699V(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGTAACTCCCTGGATTACAA	0.458000													37	310					0	0	1	0	0
SOD2	6648	broad.mit.edu	37	6	160103667	160103667	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:160103667A>C	ENST00000538183.1	-	5	687	c.527T>G	c.(526-528)cTt>cGt	p.L176R	SOD2_ENST00000546087.1_Missense_Mutation_p.L130R|SOD2_ENST00000367055.4_Missense_Mutation_p.L176R|SOD2_ENST00000367054.2_Missense_Mutation_p.L137R|SOD2_ENST00000337404.4_Missense_Mutation_p.L137R|SOD2_ENST00000444946.2_Missense_Mutation_p.L116R	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	176					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	p.L176R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CAGTGGAATAAGGCCTGTTAG	0.368000													5	57					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	67					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141816	114141816	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:114141816T>A	ENST00000276198.1	+	6	1943	c.1215T>A	c.(1213-1215)gcT>gcA	p.A405A	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.A405A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	405					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.A405A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCGCCACTGCTTTGTCTGGGA	0.453000													28	115					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152465	43152465	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:43152465G>A	ENST00000252050.4	+	2	501	c.417G>A	c.(415-417)acG>acA	p.T139T	CUL9_ENST00000354495.3_Silent_p.T139T|CUL9_ENST00000372647.2_Silent_p.T139T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	139					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.T139T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCCTCACGGCCGCTGTGC	0.637000													13	111					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55014926	55014926	+	Silent	SNP	G	G	T	rs151276812		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:55014926G>T	ENST00000301202.2	+	2	167	c.45G>T	c.(43-45)ctG>ctT	p.L15L	LAIR2_ENST00000351841.2_Silent_p.L15L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	15						extracellular region	receptor activity	p.L15L(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TGCTCTGCCTGGCCCAGACCA	0.607000													14	106					3.52763e-06	4.08631e-06	1	1	0
IRAK4	51135	broad.mit.edu	37	12	44180315	44180315	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:44180315T>C	ENST00000431837.1	+	10	1238	c.930T>C	c.(928-930)agT>agC	p.S310S	IRAK4_ENST00000440781.2_Silent_p.S310S|IRAK4_ENST00000448290.2_Silent_p.S434S|IRAK4_ENST00000551736.1_Silent_p.S434S	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	434	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S434S(2)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTGTTGCTAGTCAATGTCTGC	0.308000													20	141					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561009	9561009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:9561009C>A	ENST00000378429.3	-	5	1319	c.773G>T	c.(772-774)gGa>gTa	p.G258V	PAK7_ENST00000378423.1_Missense_Mutation_p.G258V|PAK7_ENST00000353224.5_Missense_Mutation_p.G258V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	258	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G258V(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGGCTGGGTCCCCATTCACT	0.562000													41	260					7.90463e-13	1.13049e-12	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94964180	94964180	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:94964180G>T	ENST00000341228.2	-	3	1350	c.555C>A	c.(553-555)acC>acA	p.T185T	SERPINA12_ENST00000556881.1_Silent_p.T185T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	185					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T185T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCCCATGGGTTTTTTGAC	0.398000													17	153					3.51602e-12	4.94561e-12	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35835224	35835224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:35835224C>A	ENST00000187397.4	+	20	2669	c.2213C>A	c.(2212-2214)cCc>cAc	p.P738H	ARPP21_ENST00000417925.1_Missense_Mutation_p.P739H|ARPP21_ENST00000444190.1_Missense_Mutation_p.P719H|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.P719H|ARPP21_ENST00000458225.1_Missense_Mutation_p.P739H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	738	Gln-rich.					cytoplasm	nucleic acid binding	p.P738H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAAGGACTGCCCCAGCAGTCA	0.488000													17	118					2.35188e-11	3.2545e-11	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133823374	133823374	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:133823374G>T	ENST00000395374.1	+	3	702	c.448G>T	c.(448-450)Gta>Tta	p.V150L	PHF20L1_ENST00000395376.1_Missense_Mutation_p.V316L|PHF20L1_ENST00000395382.3_Splice_Site|PHF20L1_ENST00000395383.1_Splice_Site|PHF20L1_ENST00000395386.2_Splice_Site|PHF20L1_ENST00000395390.2_Splice_Site|PHF20L1_ENST00000337920.4_Missense_Mutation_p.V285L|PHF20L1_ENST00000315808.10_Splice_Site|PHF20L1_ENST00000220847.7_Splice_Site|PHF20L1_ENST00000395379.1_Missense_Mutation_p.V311L			A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	0							nucleic acid binding|zinc ion binding	p.?(4)|p.V285L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCTGGAGCAGGTATGAAATGG	0.403000													20	94					5.03518e-11	6.89309e-11	1	1	0
SATL1	340562	broad.mit.edu	37	X	84362715	84362715	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:84362715G>T	ENST00000509231.1	-	1	1339	c.1260C>A	c.(1258-1260)ggC>ggA	p.G420G	SATL1_ENST00000332921.5_Silent_p.G233G|SATL1_ENST00000395409.3_Silent_p.G233G			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	233	N-acetyltransferase.						N-acetyltransferase activity	p.G420G(2)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTGGCTCAGGCCTGTTTGCC	0.577000													40	318					8.70804e-49	1.68883e-48	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409316	56409316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:56409316G>T	ENST00000544374.1	-	1	631	c.603C>A	c.(601-603)ttC>ttA	p.F201L	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F200L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200L(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CAATGCCATTGAAGTGGGTAT	0.423000													145	845					1.02062e-83	2.10709e-83	1	1	0
GABRR1	2569	broad.mit.edu	37	6	89891759	89891759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:89891759A>T	ENST00000435811.1	-	7	1217	c.763T>A	c.(763-765)Tac>Aac	p.Y255N	GABRR1_ENST00000454853.2_Missense_Mutation_p.Y272N|GABRR1_ENST00000369451.3_Missense_Mutation_p.Y185N	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y266N(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AAATTAATGTAGAGACGGTTG	0.448000													37	302					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3105762	3105762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:3105762G>T	ENST00000259808.4	+	9	1351	c.1053G>T	c.(1051-1053)atG>atT	p.M351I	RIPK1_ENST00000541791.1_Missense_Mutation_p.M305I|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.M351I			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	351	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.M351I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GACTTGGGATGGGTCCTGTGG	0.493000													48	389					1.08141e-31	1.99165e-31	1	1	0
CASR	846	broad.mit.edu	37	3	122002991	122002991	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:122002991C>A	ENST00000498619.1	+	7	2658	c.2220C>A	c.(2218-2220)ctC>ctA	p.L740L	CASR_ENST00000296154.5_Silent_p.L730L|CASR_ENST00000490131.1_Silent_p.L730L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	730					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L730L(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTTTTCCTCTGCACCTTCA	0.557000													12	103					0.0135373	0.0141451	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370817	240370817	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:240370817T>G	ENST00000319653.9	+	5	2935	c.2705T>G	c.(2704-2706)cTg>cGg	p.L902R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	902	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.L1045R(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCTCTGCAGGGTACA	0.662000													11	72					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551409	248551409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248551409C>A	ENST00000355728.2	+	1	500	c.500C>A	c.(499-501)cCg>cAg	p.P167Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167Q(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGTCTCCCGTTCTGTGCC	0.537000													11	27					1.58986e-06	1.85002e-06	1	1	0
CR1	1378	broad.mit.edu	37	1	207787786	207787786	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:207787786T>G	ENST00000367049.4	+	40	6613	c.6613T>G	c.(6613-6615)Ttg>Gtg	p.L2205V	CR1_ENST00000367053.1_Missense_Mutation_p.L1755V|CR1_ENST00000400960.2_Missense_Mutation_p.L1755V|CR1_ENST00000367051.1_Missense_Mutation_p.L1755V|CR1_ENST00000367052.1_Missense_Mutation_p.L1755V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1755					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCATTGTGTCTTGGCTGGAAT	0.413000													30	324					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693085	30693085	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:30693085G>A	ENST00000471646.1	-	12	1644	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	CRHR2_ENST00000348438.4_Silent_p.A436A|CRHR2_ENST00000341843.4_Silent_p.A395A|CRHR2_ENST00000506074.2_3'UTR	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	409					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A409A(2)|p.A395A(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCACACAGCGGCCGTCTGCT	0.642000													35	226					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590517	1590517	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:1590517G>A	ENST00000297477.5	-	3	637	c.321C>T	c.(319-321)agC>agT	p.S107S		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	107						integral to membrane		p.S107S(1)		endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGAGGAGGAGGCTGAGCCAGG	0.622000													3	18					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46918161	46918161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:46918161G>T	ENST00000218343.4	+	11	2452	c.2154G>T	c.(2152-2154)gaG>gaT	p.E718D	PHF16_ENST00000397189.1_Missense_Mutation_p.E718D	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		718					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.E718D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCTTTAAAGAGACCACCAATA	0.498000													13	68					3.27435e-08	4.03708e-08	1	1	0
ANKEF1	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:10030593A>G	ENST00000378380.3	+	6	1705	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.Y459C(2)									ATTGAGACCTACAAGAATGTC	0.463000													27	179					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423996	190423996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:190423996C>A	ENST00000367462.3	-	2	256	c.25G>T	c.(25-27)Gct>Tct	p.A9S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		9						extracellular region		p.A9S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACAATTCAGCACCAGCTCTG	0.478000													20	49					0.00047179	0.000516146	1	1	0
OR2A5	393046	broad.mit.edu	37	7	143748277	143748277	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:143748277C>A	ENST00000408906.2	+	1	817	c.783C>A	c.(781-783)gcC>gcA	p.A261A		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261A(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTACATGGCCCCCAAGTCCC	0.572000													28	237					2.70662e-09	3.53518e-09	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	68					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96954407	96954407	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:96954407G>A	ENST00000323853.5	-	24	3329	c.3252C>T	c.(3250-3252)gtC>gtT	p.V1084V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1084	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.V1084V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCACCTGTGTGACATACACCA	0.517000													14	71					0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826167	83826167	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:83826167C>A	ENST00000299633.4	-	4	1062	c.459_splice	c.e4+1	p.K153_splice		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		153					cell proliferation	nucleus	growth factor activity	p.K153N(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTTAGTAACCTTTGAAGTAT	0.308000													23	182					3.69857e-22	6.27042e-22	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538888	27538888	+	RNA	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:27538888G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGCAGTCTGTGGATGCTCA	0.498000													11	100					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232483	117232483	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:117232483G>A	ENST00000003084.6	+	14	2394	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V	CFTR_ENST00000454343.1_Silent_p.V693V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	754			V -> M (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.V754V(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCATCAGCGTGATCAGCACTG	0.517000									Cystic Fibrosis				10	38					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77332323	77332323	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:77332323C>A	ENST00000393774.3	+	12	1388	c.1264C>A	c.(1264-1266)Caa>Aaa	p.Q422K		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	422								p.Q422K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CTATGCAGACCAACACAAAAT	0.507000													3	12					0.115264	0.11756	1	1	0
NETO1	81832	broad.mit.edu	37	18	70417550	70417550	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr18:70417550C>G	ENST00000327305.6	-	9	1945	c.1288G>C	c.(1288-1290)Gac>Cac	p.D430H	NETO1_ENST00000583169.1_Missense_Mutation_p.D430H|NETO1_ENST00000299430.2_Missense_Mutation_p.D429H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	430					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.D430H(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGTGATGGTCATGAATGCAT	0.493000													28	122					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985602	142985602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:142985602C>A	ENST00000316549.6	-	16	2088	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G627V(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCCTCCCAGGCCGAGGTCTCC	0.498000													32	142					1.69901e-12	2.41637e-12	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157475536	157475536	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:157475536C>A	ENST00000389413.3	-	12	1898	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	PTPRN2_ENST00000409483.1_Missense_Mutation_p.G590C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G611C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G628C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G651C	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	628						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G628C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGACGCCCAGGATGCAG	0.607000													4	21					0.150653	0.15184	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75265919	75265919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:75265919G>T	ENST00000325680.7	+	5	4043	c.3919G>T	c.(3919-3921)Gag>Tag	p.E1307*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.E1112*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.E1112*(1)|p.E1307*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTGGATAATGAGTGGGACAG	0.453000													7	172					0.0477658	0.0489121	1	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470																		p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000													5	18					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342383	58342383	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:58342383C>A	ENST00000371015.1	+	5	1151	c.684C>A	c.(682-684)ctC>ctA	p.L228L	PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Silent_p.L187L|PHACTR3_ENST00000355648.4_Silent_p.L187L|PHACTR3_ENST00000359926.3_Silent_p.L225L|PHACTR3_ENST00000541461.1_Silent_p.L187L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	228	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGGCCAGCTCCCCAGCCCCC	0.607000													22	128					2.4375e-19	3.92452e-19	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31362381	31362381	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:31362381A>T	ENST00000542188.1	-	3	496	c.183T>A	c.(181-183)agT>agA	p.S61R	TRPM1_ENST00000256552.6_Missense_Mutation_p.S44R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S22R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S22R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	22					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S22R(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGGTGTTGCACTTGGCAGAG	0.512000													155	970					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740865	135740865	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:135740865G>T	ENST00000392915.1	-	9	3429	c.3310C>A	c.(3310-3312)Cag>Aag	p.Q1104K	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron					mitogen-activated protein kinase kinase kinase 19																		ATATTCAGCTGTTgaaggaag	0.408000													19	129					1.9806e-07	2.35829e-07	1	1	0
KIF9	64147	broad.mit.edu	37	3	47288896	47288896	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:47288896C>T	ENST00000335044.2	-	12	1557	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.R400R|KIF9_ENST00000352910.4_Silent_p.R307R|KIF9_ENST00000452770.2_Silent_p.R400R|KIF9_ENST00000444589.2_Silent_p.R400R	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	400					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R400R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGTACCTCCGCACCTGGG	0.557000													15	121					0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17722223	17722223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:17722223C>A	ENST00000398056.2	-	10	1632	c.817G>T	c.(817-819)Ggc>Tgc	p.G273C	FGL1_ENST00000427924.1_Missense_Mutation_p.G273C|FGL1_ENST00000398054.1_Missense_Mutation_p.G273C|FGL1_ENST00000381841.2_Missense_Mutation_p.G273C|FGL1_ENST00000381840.2_Missense_Mutation_p.G273C|FGL1_ENST00000522444.1_Missense_Mutation_p.G273C|FGL1_ENST00000518650.1_Missense_Mutation_p.G273C			Q08830	FGL1_HUMAN	fibrinogen-like 1	273	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.G273C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GTGTAGGGGCCGCTGTAGTAT	0.423000													6	29					8.12818e-05	9.12638e-05	1	1	0
SERPINA4	5267	broad.mit.edu	37	14	95034546	95034546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:95034546G>T	ENST00000557004.1	+	4	1425	c.1004G>T	c.(1003-1005)aGg>aTg	p.R335M	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R335M|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R335M			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	335					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R335M(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATTTTGCCCAGGCTGGGCTTC	0.458000													19	115					1.22574e-08	1.55341e-08	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48510590	48510590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:48510590C>A	ENST00000446524.1	+	1	322	c.246C>A	c.(244-246)ggC>ggA	p.G82G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	82			G -> D (in dbSNP:rs12805819).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G82G(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGATTTCAGGCTTGTTCTTTG	0.428000													47	414					9.22156e-22	1.5531e-21	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885288	24885288	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:24885288G>T	ENST00000382554.3	+	9	4651	c.4333G>T	c.(4333-4335)Gcc>Tcc	p.A1445S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1445					DNA integration	integral to membrane	DNA binding	p.A1445S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGACACCCTGGCCAAGCAGGG	0.582000													4	33					1.23904e-05	1.4288e-05	1	1	0
SLC29A4	222962	broad.mit.edu	37	7	5338634	5338634	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:5338634G>T	ENST00000396872.2	+	8	1059	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A300S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A286S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	300					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.A300S(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCAGCCCCGGCCCTGGCCCC	0.672000													3	24					0.00024832	0.00028598	0.009096	1	0
FLOT2	2319	broad.mit.edu	37	17	27209238	27209238	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:27209238C>T	ENST00000394906.2	-	9	839	c.762G>A	c.(760-762)aaG>aaA	p.K254K	FLOT2_ENST00000394908.4_Silent_p.K199K|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.K199K			Q14254	FLOT2_HUMAN	flotillin 2	199					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		p.K199K(2)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAGCATCTCCTTCTTGCACT	0.522000													20	158					0	0	0.043863	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619113	46619113	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:46619113T>C	ENST00000242848.4	-	3	552	c.204A>G	c.(202-204)aaA>aaG	p.K68K	ZC3H13_ENST00000282007.3_Silent_p.K68K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	68							nucleic acid binding|zinc ion binding	p.K68K(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGCTATAACCTTTACCACGAG	0.378000													5	147					0	0	0.014758	0	0
NIT1	4817	broad.mit.edu	37	1	161088937	161088937	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:161088937G>T	ENST00000368008.1	+	3	171	c.112G>T	c.(112-114)Gct>Tct	p.A38S	NIT1_ENST00000392190.5_Missense_Mutation_p.A2S|NIT1_ENST00000368007.4_Missense_Mutation_p.A23S|NIT1_ENST00000368009.2_Missense_Mutation_p.A38S|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	38					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGAGCCATGGCTATCTCCTC	0.512000													32	125					1.30015e-28	2.82086e-28	0.074837	1	0
NOMO1	23420	broad.mit.edu	37	16	14982998	14982998	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:14982998G>T	ENST00000287667.7	+	29	3541	c.3370G>T	c.(3370-3372)Gac>Tac	p.D1124Y		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1124						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.D1124Y(2)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ATCCCAGTATGACTACATCTT	0.423000													44	369					1.59911e-31	3.53258e-31	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9089295	9089295	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9089295G>T	ENST00000397910.4	-	1	2723	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	840	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L840L(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACACTTGGGAGGCTGAGAG	0.468000													16	144					4.35082e-09	6.56676e-09	0.055883	1	0
RYR2	6262	broad.mit.edu	37	1	237819276	237819276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:237819276T>A	ENST00000366574.2	+	53	8438	c.8121T>A	c.(8119-8121)gaT>gaA	p.D2707E	RYR2_ENST00000542537.1_Missense_Mutation_p.D2691E|RYR2_ENST00000360064.6_Missense_Mutation_p.D2705E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2707	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D2705E(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCTGTTGATACCTCAAAGT	0.358000													15	41					0	0	0.132662	0	0
DRC1	92749	broad.mit.edu	37	2	26667141	26667141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:26667141G>T	ENST00000288710.2	+	9	1154	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.K360N(2)									AGCAAATAAAGCAGTTTCAGG	0.408000													11	95					0.00829132	0.00875996	0.069234	1	0
BOC	91653	broad.mit.edu	37	3	112993283	112993283	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:112993283C>A	ENST00000495514.1	+	9	2000	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	BOC_ENST00000355385.3_Silent_p.P432P|BOC_ENST00000273395.4_Silent_p.P432P			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	432					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.P432P(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGTATCACCCTCCAAACTCG	0.607000													7	75					1.06961e-07	1.48272e-07	0.038147	1	0
ACTL7B	10880	broad.mit.edu	37	9	111618088	111618088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:111618088C>T	ENST00000374667.3	-	1	1151	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	41						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.M41I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTGGGCTTCATCTTGAGCT	0.657000													18	107					0	0	0.043863	0	0
UBXN10	127733	broad.mit.edu	37	1	20517245	20517245	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:20517245C>T	ENST00000375099.3	+	2	275	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	64								p.P64L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CATCATATACCATCTCCGCCT	0.537000													9	76					0	0	0.069234	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719632	140719632	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:140719632T>C	ENST00000394576.2	+	1	1094	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.I365T(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCATAATTGGGCTT	0.428000													27	179					0	0	0.116897	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650121	75650121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:75650121G>T	ENST00000361470.2	+	1	2076	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	600	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.E600*(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCCAAGGAGGCTGAGAT	0.502000													6	39					2.0095e-06	2.54327e-06	0.029380	1	0
CCDC88A	55704	broad.mit.edu	37	2	55563913	55563913	+	Silent	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:55563913A>G	ENST00000436346.1	-	14	2401	c.1560T>C	c.(1558-1560)agT>agC	p.S520S	CCDC88A_ENST00000413716.2_Silent_p.S520S|CCDC88A_ENST00000336838.6_Silent_p.S520S|CCDC88A_ENST00000263630.8_Silent_p.S520S|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	520					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.S520S(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATTCTGAAGACTTTGCTTTT	0.318000													11	66					0	0	0.069234	0	0
DZIP1	22873	broad.mit.edu	37	13	96274626	96274626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:96274626G>A	ENST00000347108.3	-	7	1513	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	DZIP1_ENST00000376829.2_Missense_Mutation_p.H361Y|DZIP1_ENST00000361156.3_Missense_Mutation_p.H361Y|DZIP1_ENST00000361396.2_Missense_Mutation_p.H361Y			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	361					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.H361Y(4)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGACATTATGGAAATCCTGG	0.423000													17	141					0	0	0.146539	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038323	117038323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:117038323G>T	ENST00000527958.1	+	6	757	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	200					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	p.G200W(2)		kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TCTGACAGGAGGGGGCTATGC	0.532000			T	IGH@	MLCLS								7	67					0.00010058	0.000119224	0.093190	1	0
CRHR2	1395	broad.mit.edu	37	7	30693085	30693085	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:30693085G>A	ENST00000471646.1	-	12	1644	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	CRHR2_ENST00000341843.4_Silent_p.A395A|CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Silent_p.A436A	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	409					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A409A(2)|p.A395A(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCACACAGCGGCCGTCTGCT	0.642000													22	117					0	0	0.083992	0	0
OR5F1	338674	broad.mit.edu	37	11	55761412	55761412	+	Silent	SNP	C	C	G	rs144082157	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:55761412C>G	ENST00000278409.1	-	1	689	c.690G>C	c.(688-690)tcG>tcC	p.S230S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCCCTCCCCCGAATGCATAG	0.478000													8	41					0	0	0.038147	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618186	77618186	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:77618186G>T	ENST00000521891.2	+	2	2311	c.1863G>T	c.(1861-1863)gtG>gtT	p.V621V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.V621V|ZFHX4_ENST00000050961.6_Silent_p.V621V|ZFHX4_ENST00000518282.1_Silent_p.V621V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	621						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V621V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCGACACTGTGTTGGGGTCTT	0.532000										HNSCC(33;0.089)			13	72					0.000151284	0.000177595	0.105934	1	0
ALDH5A1	7915	broad.mit.edu	37	6	24503644	24503644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:24503644G>C	ENST00000357578.3	+	3	737	c.592G>C	c.(592-594)Gct>Cct	p.A198P	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A170P|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A198P|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A110P	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	198					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.A198P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CATAGGCGTGGCTGCAGTCAT	0.567000													6	54					0	0	0.029380	0	0
ZNF766	90321	broad.mit.edu	37	19	52794388	52794388	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:52794388T>C	ENST00000439461.1	+	4	1387	c.1344T>C	c.(1342-1344)ttT>ttC	p.F448F	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Intron|ZNF766_ENST00000359102.4_Intron|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F448F(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GTAAGGTCTTTAGGCACAGTT	0.413000													7	191					0	0	0.029380	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:125298619G>C	ENST00000538699.1	-	2	1369	c.1289C>G	c.(1288-1290)gCg>gGg	p.A430G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A430G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602000													27	160					0	0	0.125774	0	0
FCRL1	115350	broad.mit.edu	37	1	157771827	157771827	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:157771827G>A	ENST00000358292.3	-	5	815	c.764C>T	c.(763-765)cCc>cTc	p.P255L	FCRL1_ENST00000491942.1_Missense_Mutation_p.P255L|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.P255L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	255	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.P255L(4)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTCCAGAGGGGGCCGACCT	0.582000													33	99					0	0	0.050027	0	0
ADAM30	11085	broad.mit.edu	37	1	120438759	120438759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:120438759C>A	ENST00000369400.1	-	1	359	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q67H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCCTTTTAACTGCAGTAGGT	0.542000													18	98					0.000132079	0.000155802	0.049695	1	0
IHH	3549	broad.mit.edu	37	2	219922285	219922285	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:219922285G>A	ENST00000295731.5	-	2	446	c.447C>T	c.(445-447)cgC>cgT	p.R149R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	149					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.R149R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACCGCGCGGCCCTCAT	0.617000													7	31					0	0	0.029380	0	0
IPO7	10527	broad.mit.edu	37	11	9463643	9463643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:9463643A>G	ENST00000379719.3	+	24	3060	c.2918A>G	c.(2917-2919)aAt>aGt	p.N973S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	973					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.N973S(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAAAATCGTAATCCTGTGTGG	0.403000													16	96					0	0	0.043863	0	0
LTBP1	4052	broad.mit.edu	37	2	33488394	33488394	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:33488394T>A	ENST00000404816.2	+	15	2905	c.2552T>A	c.(2551-2553)gTt>gAt	p.V851D	LTBP1_ENST00000404525.1_Missense_Mutation_p.V472D|LTBP1_ENST00000402934.1_Missense_Mutation_p.V472D|LTBP1_ENST00000354476.3_Missense_Mutation_p.V852D|LTBP1_ENST00000418533.2_Missense_Mutation_p.V525D|LTBP1_ENST00000390003.4_Missense_Mutation_p.V526D|LTBP1_ENST00000407925.1_Missense_Mutation_p.V525D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	851					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.V852D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTGTGCCTGTTGAAGTAGCT	0.403000													27	203					0	0	0.045705	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913163	111913163	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:111913163C>A	ENST00000368761.5	-	2	605	c.127G>T	c.(127-129)Gca>Tca	p.A43S	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.A43S|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.A52S|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	52					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.A52S(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGTTGGGTGCCATGTTCCTT	0.478000													21	146					1.96292e-10	3.22291e-10	0.055883	1	0
EDEM2	55741	broad.mit.edu	37	20	33714148	33714148	+	Missense_Mutation	SNP	C	C	A	rs148170838	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:33714148C>A	ENST00000540582.1	-	12	1473	c.752G>T	c.(751-753)cGc>cTc	p.R251L	EDEM2_ENST00000374491.2_Missense_Mutation_p.R255L|EDEM2_ENST00000374492.3_Missense_Mutation_p.R292L|EDEM2_ENST00000541621.1_Missense_Mutation_p.R71L|EDEM2_ENST00000542871.1_Missense_Mutation_p.R16L			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	292					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.R292L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCATCGAAGCGGGTGTAGTT	0.532000													19	116					8.10497e-08	1.14506e-07	0.055883	1	0
TDRD5	163589	broad.mit.edu	37	1	179562935	179562935	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:179562935C>A	ENST00000444136.1	+	3	823	c.573C>A	c.(571-573)acC>acA	p.T191T	TDRD5_ENST00000367614.1_Silent_p.T191T|TDRD5_ENST00000294848.8_Silent_p.T191T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	191	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.T191T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGAGCAGACCAGAGCAGGTT	0.433000													48	106					2.24722e-20	4.55062e-20	0.139131	1	0
TNC	3371	broad.mit.edu	37	9	117803262	117803262	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:117803262C>T	ENST00000350763.4	-	19	5761	c.5350G>A	c.(5350-5352)Ggc>Agc	p.G1784S	TNC_ENST00000537320.1_Missense_Mutation_p.G1147S|TNC_ENST00000341037.4_Missense_Mutation_p.G1602S|TNC_ENST00000535648.1_Missense_Mutation_p.G1329S|TNC_ENST00000346706.3_Missense_Mutation_p.G1238S|TNC_ENST00000340094.3_Missense_Mutation_p.G1420S|TNC_ENST00000423613.2_Missense_Mutation_p.G1511S|TNC_ENST00000345230.3_Missense_Mutation_p.G1147S|TNC_ENST00000542877.1_Missense_Mutation_p.G1421S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1784	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.G1784S(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCTCAAAGCCCTTCATGGCG	0.502000													39	118					0	0	0.092188	0	0
ASPM	259266	broad.mit.edu	37	1	197057403	197057403	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:197057403T>A	ENST00000367409.4	-	26	10400	c.10144A>T	c.(10144-10146)Aca>Tca	p.T3382S	ASPM_ENST00000294732.7_Missense_Mutation_p.T1797S|ASPM_ENST00000367408.1_Missense_Mutation_p.T1047S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3382					mitosis	cytoplasm|nucleus	calmodulin binding	p.T3382S(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTATTTGTTGTCTTCAGTAAA	0.333000													21	210					0	0	0.055883	0	0
FUBP1	8880	broad.mit.edu	37	1	78430042	78430042	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:78430042C>A	ENST00000370767.1	-	11	925		c.e11-1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAATGGGGACCTTATGTAAAA	0.338000			"""F, N"""		oligodendroglioma								8	62					0.00448238	0.00479832	0.047766	1	0
OR12D2	26529	broad.mit.edu	37	6	29364990	29364990	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:29364990A>C	ENST00000383555.2	+	1	575	c.514A>C	c.(514-516)Atc>Ctc	p.I172L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I172L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCCAACCGTATCCATCATTT	0.478000													13	244					0	0	0.033300	0	0
MECOM	2122	broad.mit.edu	37	3	168812877	168812877	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:168812877A>T	ENST00000464456.1	-	11	3615	c.2415T>A	c.(2413-2415)aaT>aaA	p.N805K	MECOM_ENST00000460814.1_Missense_Mutation_p.N805K|MECOM_ENST00000472280.1_Missense_Mutation_p.N815K|MECOM_ENST00000468789.1_Missense_Mutation_p.N814K|MECOM_ENST00000433243.2_Missense_Mutation_p.N815K|MECOM_ENST00000392736.3_Missense_Mutation_p.N814K|MECOM_ENST00000264674.3_Missense_Mutation_p.N879K|MECOM_ENST00000494292.1_Missense_Mutation_p.N993K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.N814K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACATGTTCCCATTCTCATGTT	0.323000													12	88					0	0	0.105934	0	0
KEAP1	9817	broad.mit.edu	37	19	10610279	10610279	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:10610279G>A	ENST00000171111.5	-	2	978	c.431C>T	c.(430-432)tCc>tTc	p.S144F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S144F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	144	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S144F(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGGAGATGGAGGCCGTGTA	0.587000													11	51					0	0	0.069234	0	0
FLNB	2317	broad.mit.edu	37	3	58110122	58110122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:58110122G>T	ENST00000357272.4	+	22	3953	c.3788G>T	c.(3787-3789)gGt>gTt	p.G1263V	FLNB_ENST00000348383.5_Missense_Mutation_p.G1263V|FLNB_ENST00000295956.4_Missense_Mutation_p.G1263V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1094V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1263V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1263V|FLNB_ENST00000419752.2_Missense_Mutation_p.G1094V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1263V			O75369	FLNB_HUMAN	filamin B, beta	1263	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G1263V(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGGTTGGGGGTGACCACATC	0.572000													19	84					5.3912e-06	6.71827e-06	0.038395	1	0
SEMA4A	64218	broad.mit.edu	37	1	156126349	156126349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:156126349C>G	ENST00000368285.3	+	3	551	c.284C>G	c.(283-285)cCc>cGc	p.P95R	SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P95R|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P95R|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	95	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.P95R(2)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGGGTCCCCAGGCTAAAG	0.567000													15	43					0	0	0.033300	0	0
COL24A1	255631	broad.mit.edu	37	1	86512537	86512537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:86512537G>T	ENST00000370571.2	-	12	2287	c.1921C>A	c.(1921-1923)Cgt>Agt	p.R641S	COL24A1_ENST00000436319.1_Missense_Mutation_p.R641S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	641			R -> H (in dbSNP:rs60891279).		cell adhesion	collagen	extracellular matrix structural constituent	p.R641S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ttctttccacggatcccagga	0.313000													13	154					1.05317e-09	1.6511e-09	0.119110	1	0
FLRT2	23768	broad.mit.edu	37	14	86089492	86089492	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:86089492G>T	ENST00000330753.4	+	2	2401	c.1634G>T	c.(1633-1635)gGc>gTc	p.G545V	FLRT2_ENST00000554746.1_Missense_Mutation_p.G545V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	545					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G545V(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGCTGGCGGGCTTGATCGGG	0.587000													11	88					4.36969e-10	6.98576e-10	0.105934	1	0
ANGPTL1	9068	broad.mit.edu	37	1	178834573	178834573	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:178834573C>G	ENST00000234816.2	-	3	786	c.339G>C	c.(337-339)gtG>gtC	p.V113V	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Silent_p.V113V|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	113						extracellular space	receptor binding	p.V113V(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTACCTCATTCACAATGTTTC	0.438000													8	172					0	0	0.047766	0	0
SCN3A	6328	broad.mit.edu	37	2	165969467	165969467	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:165969467G>T	ENST00000360093.3	-	21	4262	c.3771C>A	c.(3769-3771)ctC>ctA	p.L1257L	SCN3A_ENST00000409101.3_Silent_p.L1208L|SCN3A_ENST00000283254.7_Silent_p.L1257L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1257						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1257L(2)|p.L1208L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAACCCATTTGAGAAGCATTT	0.323000													73	394					4.09166e-32	9.12177e-32	0.139131	1	0
ALMS1P	200420	broad.mit.edu	37	2	73898278	73898278	+	RNA	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:73898278G>T	ENST00000450720.1	+	0	307					NR_003683.2																						ACACAAGCAGGTAATTACTTG	0.353000													23	164					7.87624e-14	1.43904e-13	0.076483	1	0
FOXP3	50943	broad.mit.edu	37	X	49108150	49108150	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:49108150A>T	ENST00000376207.4	-	11	1308	c.1121T>A	c.(1120-1122)tTc>tAc	p.F374Y	FOXP3_ENST00000376199.2_Missense_Mutation_p.F339Y|FOXP3_ENST00000557224.1_Missense_Mutation_p.F339Y|FOXP3_ENST00000376197.1_Missense_Mutation_p.F324Y|FOXP3_ENST00000518685.1_Missense_Mutation_p.F339Y|FOXP3_ENST00000455775.2_Missense_Mutation_p.F347Y	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	374					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding	p.F374Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATGGTTTCTGAAGAAGGCAAA	0.587000													5	25					0	0	0.021553	0	0
NRCAM	4897	broad.mit.edu	37	7	107808728	107808728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:107808728C>A	ENST00000379028.3	-	29	3777	c.3307G>T	c.(3307-3309)Gca>Tca	p.A1103S	NRCAM_ENST00000425651.2_Missense_Mutation_p.A1103S|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1103S|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000351718.4_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1103	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.A1103S(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACTGCCTGCTACACCATAT	0.363000													9	73					3.09899e-07	4.13766e-07	0.047766	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232574993	232574993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:232574993C>A	ENST00000366630.1	-	14	4250	c.3892G>T	c.(3892-3894)Gct>Tct	p.A1298S	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A372S|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1298S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1298					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A1298S(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGCATCAGCCCACTGCTCG	0.662000													16	47					1.56452e-12	2.77503e-12	0.043863	1	0
ABCB4	5244	broad.mit.edu	37	7	87031499	87031499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:87031499C>G	ENST00000265723.4	-	28	3885	c.3774G>C	c.(3772-3774)aaG>aaC	p.K1258N	ABCB4_ENST00000359206.3_Missense_Mutation_p.K1251N|ABCB4_ENST00000358400.3_Missense_Mutation_p.K1204N|ABCB4_ENST00000545634.1_Missense_Mutation_p.K1251N|ABCB4_ENST00000453593.1_Missense_Mutation_p.K1204N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1258	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.K1251N(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCCATGCTCCTTGACTCTCC	0.498000													15	145					0	0	0.146539	0	0
TNR	7143	broad.mit.edu	37	1	175325510	175325510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:175325510C>A	ENST00000367674.1	-	16	3771	c.3063G>T	c.(3061-3063)atG>atT	p.M1021I	TNR_ENST00000263525.2_Missense_Mutation_p.M1021I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1021	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.M1021I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGGCATACATGGTGGCAG	0.507000													26	137					4.26978e-12	7.51852e-12	0.083992	1	0
CEACAM7	1087	broad.mit.edu	37	19	42191009	42191009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:42191009C>A	ENST00000006724.3	-	2	409	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70W|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70W|CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70W	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACCCTTTCCCCTTTGTACCAG	0.438000													18	146					1.33834e-09	2.05833e-09	0.043863	1	0
KIAA1210	57481	broad.mit.edu	37	X	118220652	118220652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:118220652C>A	ENST00000402510.2	-	11	4540	c.4541G>T	c.(4540-4542)aGg>aTg	p.R1514M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1514								p.R1514M(2)|p.R1338M(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTATGTCCCCTGCCTACAGA	0.502000													14	61					7.93312e-07	1.03088e-06	0.119110	1	0
SEZ6L	23544	broad.mit.edu	37	22	26769422	26769422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:26769422C>T	ENST00000404234.3	+	14	2996	c.2800C>T	c.(2800-2802)Caa>Taa	p.Q934*	SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.Q934*|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.Q707*|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000360929.3_Intron	NM_001184773.1|NM_021115.4	NP_001171702.1|NP_066938.2	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	934						endoplasmic reticulum membrane|integral to membrane		p.Q934*(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTTAATCAAGACAGTTT	0.353000													7	82					0	0	0.038147	0	0
SLC36A3	285641	broad.mit.edu	37	5	150656993	150656993	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:150656993G>T	ENST00000335230.3	-	10	1785	c.1374C>A	c.(1372-1374)atC>atA	p.I458I	SLC36A3_ENST00000377713.3_Silent_p.I499I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	458						integral to membrane		p.I458I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAATGGCTGATGGGTTGGG	0.478000													20	203					8.34094e-07	1.07811e-06	0.049695	1	0
IQGAP2	10788	broad.mit.edu	37	5	75989204	75989204	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:75989204G>T	ENST00000274364.6	+	31	4227	c.3930G>T	c.(3928-3930)gtG>gtT	p.V1310V	IQGAP2_ENST00000379730.3_Silent_p.V812V|IQGAP2_ENST00000396234.3_Silent_p.V806V|IQGAP2_ENST00000502745.1_Silent_p.V806V|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1310					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.V1310V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATTGATGTGATCCGGAACC	0.398000													7	40					2.0095e-06	2.54327e-06	0.029380	1	0
PAN2	9924	broad.mit.edu	37	12	56720127	56720127	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56720127C>T	ENST00000425394.2	-	8	1705	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	PAN2_ENST00000548043.1_Silent_p.A443A|PAN2_ENST00000257931.5_Silent_p.A443A|PAN2_ENST00000440411.3_Silent_p.A443A	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	443					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.A443A(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGGATTGGGCGCATAGCCAA	0.542000													4	20					0	0	0.009096	0	0
LAMP5	24141	broad.mit.edu	37	20	9496207	9496207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:9496207C>A	ENST00000246070.2	+	2	664	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	LAMP5_ENST00000427562.2_Missense_Mutation_p.L58I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	58						integral to membrane		p.L58I(2)									GACGACGTGTCTCATGGCAGA	0.463000													22	126					7.41877e-09	1.09925e-08	0.062417	1	0
NPNT	255743	broad.mit.edu	37	4	106863785	106863785	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:106863785G>C	ENST00000379987.2	+	8	1301	c.1085G>C	c.(1084-1086)aGt>aCt	p.S362T	NPNT_ENST00000514622.1_Missense_Mutation_p.S362T|NPNT_ENST00000506666.1_Missense_Mutation_p.S392T|NPNT_ENST00000453617.2_Missense_Mutation_p.S379T|NPNT_ENST00000427316.2_Missense_Mutation_p.S392T|NPNT_ENST00000305572.8_Missense_Mutation_p.S362T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	362	Pro-rich.				cell differentiation	membrane	calcium ion binding	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCAGCTGCCAGTACACCTCCA	0.512000													7	93					0	0	0.058154	0	0
NEK11	79858	broad.mit.edu	37	3	130881250	130881250	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:130881250A>T	ENST00000383366.4	+	11	1255		c.e11-1		NEK11_ENST00000508196.1_Splice_Site|NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000510769.1_Splice_Site|NEK11_ENST00000412440.2_Splice_Site|NEK11_ENST00000356918.4_Splice_Site|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000507910.1_Splice_Site	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGTTATTTATAGGCAAAAAAG	0.413000													63	359					0	0	0.139131	0	0
CEACAM7	1087	broad.mit.edu	37	19	42191008	42191008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:42191008C>A	ENST00000006724.3	-	2	410	c.209G>T	c.(208-210)gGg>gTg	p.G70V	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70V|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70V|CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70V	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CACCCTTTCCCCTTTGTACCA	0.438000													18	147					1.33834e-09	2.05833e-09	0.043863	1	0
KIF13B	23303	broad.mit.edu	37	8	29035078	29035078	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:29035078C>A	ENST00000524189.1	-	9	776	c.738G>T	c.(736-738)gtG>gtT	p.V246V	KIF13B_ENST00000521515.1_Silent_p.V246V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	246	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.V246V(4)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGAGTTTGCCCACTTTCTCTC	0.502000													16	148					1.67942e-08	2.42915e-08	0.038395	1	0
MUC16	94025	broad.mit.edu	37	19	9046706	9046706	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9046706G>T	ENST00000397910.4	-	5	35128	c.34925C>A	c.(34924-34926)aCt>aAt	p.T11642N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11644	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7275N(2)|p.T11642N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTACTAGTGTCTGTTGC	0.517000													20	107					1.28384e-07	1.72361e-07	0.062417	1	0
RARS2	57038	broad.mit.edu	37	6	88228554	88228554	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:88228554T>A	ENST00000369536.5	-	15	1338	c.1293A>T	c.(1291-1293)gcA>gcT	p.A431A	RARS2_ENST00000497828.1_5'UTR	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	431					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.A431A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GAATAATGAGTGCTGCGAGCC	0.463000													9	71					0	0	0.058154	0	0
SLC20A2	6575	broad.mit.edu	37	8	42287590	42287590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:42287590C>A	ENST00000342228.3	-	9	2070	c.1701G>T	c.(1699-1701)acG>acT	p.T567T	SLC20A2_ENST00000520262.1_Silent_p.T567T|SLC20A2_ENST00000520179.1_Silent_p.T567T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	567					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T567T(2)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCTGGACGGCGTGATGGGAG	0.607000													7	46					1.06961e-07	1.48272e-07	0.038147	1	0
DUSP27	92235	broad.mit.edu	37	1	167096659	167096659	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:167096659G>T	ENST00000361200.2	+	6	2457	c.2291G>T	c.(2290-2292)gGg>gTg	p.G764V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G764V|DUSP27_ENST00000443333.1_Missense_Mutation_p.G764V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	764					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G764V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTGCCTGGGGGATGACCAA	0.567000													9	71					1.49906e-05	1.83051e-05	0.119110	1	0
TNXB	7148	broad.mit.edu	37	6	32052275	32052275	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:32052275C>A	ENST00000375244.3	-	8	3561	c.3360G>T	c.(3358-3360)ctG>ctT	p.L1120L	TNXB_ENST00000375247.2_Silent_p.L1120L			P22105	TENX_HUMAN	tenascin XB	1207	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L1207L(2)|p.L1120L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCAGGATCCAGGGAGGTGA	0.582000													6	28					0.00116845	0.00128476	0.021553	1	0
UBR5	51366	broad.mit.edu	37	8	103266711	103266711	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:103266711G>A	ENST00000520539.1	-	59	8825	c.8219C>T	c.(8218-8220)cCa>cTa	p.P2740L	UBR5_ENST00000518205.1_Missense_Mutation_p.P468L|UBR5_ENST00000220959.4_Missense_Mutation_p.P2739L|UBR5_ENST00000521922.1_Missense_Mutation_p.P2733L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2740	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.P2740L(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACTGGCTGGCAGTGATGG	0.408000													11	73					0	0	0.069234	0	0
PYCRL	65263	broad.mit.edu	37	8	144689140	144689140	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:144689140G>A	ENST00000220966.6	-	3	384	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	107					proline biosynthetic process		pyrroline-5-carboxylate reductase activity	p.L107L(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGGGTGCTCAGAGACACCCCA	0.632000													9	65					0	0	0.047766	0	0
RYR3	6263	broad.mit.edu	37	15	33945030	33945030	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:33945030C>A	ENST00000389232.4	+	32	4324	c.4254C>A	c.(4252-4254)gcC>gcA	p.A1418A	RYR3_ENST00000415757.3_Silent_p.A1418A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1418	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1418A(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGATCTGGCCATGGGCATGT	0.577000													10	63					1.76689e-08	2.54056e-08	0.058154	1	0
COL22A1	169044	broad.mit.edu	37	8	139737684	139737684	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:139737684C>A	ENST00000303045.6	-	24	2586		c.e24-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity	p.?(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGAGGGCCCTGTAGAGAAA	0.572000										HNSCC(7;0.00092)			21	111					3.7963e-18	7.50002e-18	0.083992	1	0
PRPF18	8559	broad.mit.edu	37	10	13655795	13655795	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:13655795C>T	ENST00000378572.3	+	7	794	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	212					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		p.R212C(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTATGTGAAACGCAGTGTGCA	0.453000													16	84					0	0	0.146539	0	0
HHATL	57467	broad.mit.edu	37	3	42739015	42739015	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:42739015G>T	ENST00000441594.1	-	7	1111	c.850C>A	c.(850-852)Cca>Aca	p.P284T	HHATL_ENST00000310417.5_Missense_Mutation_p.P284T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	284					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.P284T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCACTGTCTGGGAGGCGGTTG	0.617000													11	105					1.67942e-08	2.42915e-08	0.038395	1	0
CACNA2D1	781	broad.mit.edu	37	7	81662148	81662148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:81662148G>T	ENST00000356860.3	-	12	1446	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q370K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	370	VWFA.					voltage-gated calcium channel complex	metal ion binding	p.Q370K(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATATCTCCTGGGCTCTCTCT	0.279000													12	94					7.93312e-07	1.03088e-06	0.119110	1	0
KEL	3792	broad.mit.edu	37	7	142641424	142641424	+	Missense_Mutation	SNP	G	G	T	rs61729050		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:142641424G>T	ENST00000355265.2	-	13	1951	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	493					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q493K(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGTATTCTTGTCGGGCCAGC	0.522000													11	98					1.08611e-07	1.48272e-07	0.080935	1	0
BCOR	54880	broad.mit.edu	37	X	39932097	39932097	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:39932097G>A	ENST00000342274.4	-	4	2864	c.2502C>T	c.(2500-2502)agC>agT	p.S834S	BCOR_ENST00000378444.4_Silent_p.S834S|BCOR_ENST00000378455.4_Silent_p.S834S|BCOR_ENST00000397354.3_Silent_p.S834S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	834					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.S834S(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGCTCAGCGCTCTGGCCAA	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						13	62					0	0	0.093190	0	0
OR52N2	390077	broad.mit.edu	37	11	5841641	5841641	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:5841641C>A	ENST00000317037.2	+	1	98	c.76C>A	c.(76-78)Cac>Aac	p.H26N	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H26N(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCCACACACATCTGGAT	0.547000													8	86					1.61879e-10	2.67596e-10	0.093190	1	0
C1orf94	84970	broad.mit.edu	37	1	34677938	34677938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:34677938C>A	ENST00000488417.1	+	6	1772	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	C1orf94_ENST00000373374.3_Missense_Mutation_p.S361Y	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	361							protein binding	p.S551Y(2)|p.S361Y(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAAGATGTCTGCCAACCCC	0.567000													5	64					0.00307968	0.00332605	0.038147	1	0
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:147796051C>T	ENST00000513335.1	-	8	893	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000325106.4_Missense_Mutation_p.E206K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448000													6	38					0	0	0.069234	0	0
ZNF165	7718	broad.mit.edu	37	6	28056964	28056964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:28056964C>T	ENST00000377325.1	+	4	1730	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	392					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R392*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TAGACATCGGCGAATTCACAC	0.448000													5	93					0	0	0.021553	0	0
IL16	3603	broad.mit.edu	37	15	81592014	81592014	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:81592014C>A	ENST00000394660.2	+	14	2707	c.2347C>A	c.(2347-2349)Cct>Act	p.P783T	IL16_ENST00000302987.4_Missense_Mutation_p.P783T|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.P82T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAGAAAGGTCCTCCTGTGGC	0.567000													8	83					0.000157383	0.000182986	0.038147	1	0
TRIM11	81559	broad.mit.edu	37	1	228584677	228584677	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:228584677C>A	ENST00000493030.2	-	4	4164	c.455G>T	c.(454-456)gGa>gTa	p.G152V	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.G277V|TRIM11_ENST00000366699.3_Missense_Mutation_p.G277V			Q96F44	TRI11_HUMAN	tripartite motif containing 11	277					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	p.G277V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CTCTACCAGTCCCGGGACCCT	0.637000													11	82					6.31663e-08	9.02906e-08	0.132662	1	0
SOX6	55553	broad.mit.edu	37	11	15994629	15994629	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:15994629C>A	ENST00000352083.6	-	16	2290	c.2213G>T	c.(2212-2214)gGa>gTa	p.G738V	SOX6_ENST00000316399.6_Missense_Mutation_p.G718V|SOX6_ENST00000528429.1_Missense_Mutation_p.G738V|SOX6_ENST00000527619.1_Missense_Mutation_p.G714V|SOX6_ENST00000528252.1_Missense_Mutation_p.G711V|SOX6_ENST00000396356.3_Missense_Mutation_p.G718V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	738					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G718V(2)|p.G714V(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACACCTGTTCCTGTGGTGAT	0.468000													8	71					5.4927e-09	8.18851e-09	0.047766	1	0
DCDC1	341019	broad.mit.edu	37	11	30930520	30930520	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:30930520C>A	ENST00000597505.1	-	27	3890	c.3891G>T	c.(3889-3891)gtG>gtT	p.V1297V	DCDC1_ENST00000406071.2_Silent_p.V32V|DCDC1_ENST00000339794.5_Silent_p.V376V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.V376V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTCTTTAATCACAGATGATG	0.318000													12	109					2.23348e-06	2.81211e-06	0.146539	1	0
TRPV4	59341	broad.mit.edu	37	12	110224614	110224614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:110224614C>A	ENST00000418703.2	-	13	2331	c.2237G>T	c.(2236-2238)cGc>cTc	p.R746L	TRPV4_ENST00000537083.1_Missense_Mutation_p.R686L|TRPV4_ENST00000541794.1_Missense_Mutation_p.R699L|TRPV4_ENST00000261740.2_Missense_Mutation_p.R746L|TRPV4_ENST00000346520.2_Missense_Mutation_p.R686L|TRPV4_ENST00000536838.1_Missense_Mutation_p.R712L|TRPV4_ENST00000392719.2_Missense_Mutation_p.R699L|TRPV4_ENST00000544971.1_Missense_Mutation_p.R639L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	746					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.R746L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGGAAGGAGCGCTCAATGTC	0.652000													5	36					3.59834e-05	4.32869e-05	0.021553	1	0
TBX5	6910	broad.mit.edu	37	12	114804095	114804095	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:114804095T>A	ENST00000310346.4	-	8	1523	c.857A>T	c.(856-858)aAt>aTt	p.N286I	TBX5_ENST00000349716.5_Missense_Mutation_p.N236I|TBX5_ENST00000405440.2_Missense_Mutation_p.N286I|TBX5_ENST00000526441.1_Missense_Mutation_p.N286I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	286					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N286I(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGACCCCAAATTGGATGAGGT	0.577000													20	126					0	0	0.091800	0	0
ZNF777	27153	broad.mit.edu	37	7	149153030	149153030	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:149153030G>A	ENST00000247930.4	-	2	407	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P28P(2)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTTTCTCGGGGGAGTCCAG	0.547000													16	99					0	0	0.146539	0	0
PLCB1	23236	broad.mit.edu	37	20	8862361	8862361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:8862361G>T	ENST00000338037.6	+	32	3543	c.3516G>T	c.(3514-3516)aaG>aaT	p.K1172N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1172					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.K1172N(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAAAGGAAAGATCAGTGAAG	0.517000													42	245					1.00001e-27	2.13159e-27	0.111260	1	0
KIAA1024	23251	broad.mit.edu	37	15	79750731	79750731	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:79750731G>A	ENST00000305428.3	+	2	2317	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	748						integral to membrane		p.E748K(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATGAGGAGGAGATAAAAGA	0.468000													12	74					0	0	0.093190	0	0
UMOD	7369	broad.mit.edu	37	16	20352502	20352502	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:20352502C>G	ENST00000396134.2	-	8	1710	c.1587G>C	c.(1585-1587)ctG>ctC	p.L529L	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Silent_p.L496L|UMOD_ENST00000424589.1_Silent_p.L529L|UMOD_ENST00000396138.4_Silent_p.L545L|UMOD_ENST00000570689.1_Silent_p.L496L|UMOD_ENST00000396142.2_Silent_p.L496L	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	496	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.L496L(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAAATCGGGACAGGTCGCCCC	0.567000													4	49					0	0	0.014758	0	0
AHNAK	79026	broad.mit.edu	37	11	62287633	62287633	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:62287633G>A	ENST00000378024.4	-	5	14530	c.14256C>T	c.(14254-14256)ggC>ggT	p.G4752G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4752					nervous system development	nucleus	protein binding	p.G4752G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTCTGGGCCCTTGAGGT	0.507000													23	206					0	0	0.069288	0	0
GK5	256356	broad.mit.edu	37	3	141900397	141900397	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:141900397T>C	ENST00000392993.2	-	11	1105	c.954A>G	c.(952-954)ccA>ccG	p.P318P		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	318					glycerol metabolic process		ATP binding|glycerol kinase activity	p.P318P(2)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACCCAATTAATGGATAAAAGC	0.363000													12	89					0	0	0.080935	0	0
SYNE1	23345	broad.mit.edu	37	6	152949423	152949423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:152949423G>T	ENST00000367255.5	-	3	645	c.44C>A	c.(43-45)gCc>gAc	p.A15D	SYNE1_ENST00000466159.2_Missense_Mutation_p.A15D|SYNE1_ENST00000367248.3_Missense_Mutation_p.A15D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A15D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A15D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A15D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A15D|SYNE1_ENST00000367253.4_Missense_Mutation_p.A15D|SYNE1_ENST00000413186.2_Missense_Mutation_p.A15D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	15	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A15D(6)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCACATTGGCGATATCCCG	0.498000										HNSCC(10;0.0054)			33	225					5.8336e-16	1.11619e-15	0.059317	1	0
BEND4	389206	broad.mit.edu	37	4	42127651	42127651	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:42127651C>T	ENST00000502486.1	-	4	1674	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	BEND4_ENST00000504360.1_Silent_p.L361L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	365								p.L361L(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTGGTGCTGCAGAACCATCT	0.443000													5	31					0	0	0.014758	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787146	100787146	+	Splice_Site	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:100787146G>A	ENST00000323346.5	+	4	786		c.e4-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.?(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGTCCCCCAGGGTCTTTGGA	0.473000													10	70					0	0	0.058154	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921890	78921890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:78921890C>A	ENST00000261751.3	-	5	868	c.757G>T	c.(757-759)Gtc>Ttc	p.V253F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	253					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V253F(2)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGTAGAAGACGAGGATGGCC	0.552000													14	85					1.00905e-13	1.82984e-13	0.049695	1	0
OR10W1	81341	broad.mit.edu	37	11	58035114	58035114	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:58035114G>T	ENST00000395079.2	-	1	618	c.217C>A	c.(217-219)Ctg>Atg	p.L73M		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L73M(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GTGTTGGCCAGGATATGGGGC	0.507000													15	78					1.15088e-07	1.55368e-07	0.146539	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62926160	62926160	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:62926160T>A	ENST00000253401.6	-	3	1159	c.359A>T	c.(358-360)aAg>aTg	p.K120M	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K118M|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K18M|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K67M|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K99M	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	120	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.K118M(2)|p.K120M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTTGAGGTGCTTGATGTAGTG	0.537000													3	22					0	0	0.115264	0	0
OR2T6	254879	broad.mit.edu	37	1	248551067	248551067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248551067C>A	ENST00000355728.2	+	1	158	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P53H(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACATAGACCCTCATCTCCAC	0.458000													39	93					6.04917e-29	1.32428e-28	0.092188	1	0
S1PR3	1903	broad.mit.edu	37	9	91617197	91617197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:91617197C>A	ENST00000375846.3	+	1	5777	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	S1PR3_ENST00000358157.2_Nonsense_Mutation_p.S361*			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	361					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.S361*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACAGCCCCCTCATCCTGCATC	0.537000													7	32					0.00307968	0.00332605	0.038147	1	0
SEZ6L	23544	broad.mit.edu	37	22	26690378	26690378	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:26690378G>T	ENST00000529632.2	+	3	1152	c.956G>T	c.(955-957)gGg>gTg	p.G319V	SEZ6L_ENST00000343706.4_Missense_Mutation_p.G319V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G319V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G92V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G92V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G319V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	319	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.G319V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGGCTATGGGGTGGAGCTC	0.537000													19	115					1.45105e-14	2.69165e-14	0.038395	1	0
CD1D	912	broad.mit.edu	37	1	158152847	158152847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158152847C>A	ENST00000368171.3	+	5	1286	c.787C>A	c.(787-789)Ctc>Atc	p.L263I		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	263	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.L263I(2)|p.L263F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACATGGTATCTCCGAGCAAC	0.617000													26	107					6.38683e-12	1.11655e-11	0.134883	1	0
DDX11	1663	broad.mit.edu	37	12	31249876	31249876	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:31249876G>T	ENST00000407793.2	+	17	1965	c.1714G>T	c.(1714-1716)Gct>Tct	p.A572S	DDX11_ENST00000545668.1_Missense_Mutation_p.A572S|DDX11_ENST00000350437.4_Missense_Mutation_p.A572S|DDX11_ENST00000542838.1_Missense_Mutation_p.A572S|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A546S|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	572					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.A572S(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTCCTGGCAGCTCTCACTAC	0.602000										Multiple Myeloma(12;0.14)			4	30					0.00909568	0.00952694	0.009096	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136265	40136265	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:40136265G>T	ENST00000278198.2	-	2	3541	c.1578C>A	c.(1576-1578)acC>acA	p.T526T	LRRC4C_ENST00000528697.1_Silent_p.T526T|LRRC4C_ENST00000530763.1_Silent_p.T526T|LRRC4C_ENST00000527150.1_Silent_p.T526T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	526					regulation of axonogenesis	integral to membrane	protein binding	p.T526T(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGATGATTTTGGTAGTCTTCA	0.468000													12	87					4.3838e-07	5.75818e-07	0.105934	1	0
PTCHD2	57540	broad.mit.edu	37	1	11562047	11562047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:11562047G>T	ENST00000294484.6	+	2	1136	c.998G>T	c.(997-999)tGc>tTc	p.C333F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C333F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	333					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C550F(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TACTCCTACTGCTCGCCCCCC	0.622000													5	48					3.59834e-05	4.32869e-05	0.021553	1	0
SACS	26278	broad.mit.edu	37	13	23915491	23915491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:23915491C>A	ENST00000382298.3	-	10	3112	c.2524G>T	c.(2524-2526)Gac>Tac	p.D842Y	SACS_ENST00000402364.1_Missense_Mutation_p.D92Y|SACS_ENST00000382292.3_Missense_Mutation_p.D842Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.D695Y(2)|p.D842Y(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTACAATGTCTGCTAAAAAT	0.363000													28	120					2.79863e-10	4.53378e-10	0.099896	1	0
NIT1	4817	broad.mit.edu	37	1	161088936	161088936	+	Missense_Mutation	SNP	G	G	T	rs144963228	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:161088936G>T	ENST00000368008.1	+	3	170	c.111G>T	c.(109-111)atG>atT	p.M37I	NIT1_ENST00000392190.5_Start_Codon_SNP_p.M1I|NIT1_ENST00000368007.4_Missense_Mutation_p.M22I|NIT1_ENST00000368009.2_Missense_Mutation_p.M37I|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	37					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGAGCCATGGCTATCTCCT	0.517000													31	126					7.61165e-28	1.63684e-27	0.064281	1	0
ANAPC11	51529	broad.mit.edu	37	17	79857813	79857813	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:79857813G>T	ENST00000575195.2	+	2	307	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	ANAPC11_ENST00000578550.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000392376.3_Missense_Mutation_p.D43Y|ANAPC11_ENST00000578544.1_3'UTR|ANAPC11_ENST00000577425.1_3'UTR|ANAPC11_ENST00000579978.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000571570.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000579133.1_3'UTR|ANAPC11_ENST00000577747.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000572851.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000344877.5_Missense_Mutation_p.D43Y|ANAPC11_ENST00000583839.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000572639.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000574924.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000357385.3_Missense_Mutation_p.R143L|ANAPC11_ENST00000571024.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000571874.2_Missense_Mutation_p.D43Y			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	p.R143L(1)		kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCGGCGACGACTGCCCGCT	0.637000													4	29					1.23904e-05	1.52064e-05	0.014758	1	0
REG1P	5969	broad.mit.edu	37	2	79363870	79363870	+	RNA	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:79363870C>T	ENST00000444841.1	-	0	468																											GACATCAGACCCTCTGGAACC	0.433000													5	22					0	0	0.021553	0	0
SERPINI2	5276	broad.mit.edu	37	3	167164213	167164213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:167164213G>T	ENST00000476257.1	-	9	1406	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T	SERPINI2_ENST00000461846.1_Missense_Mutation_p.P370T|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P370T|SERPINI2_ENST00000471111.1_Missense_Mutation_p.P370T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	370					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P370T(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AACAGAAATGGATGATTTGCT	0.333000													18	182					3.32936e-07	4.42095e-07	0.038395	1	0
NALCN	259232	broad.mit.edu	37	13	101755531	101755531	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:101755531T>A	ENST00000251127.6	-	26	3130	c.3049A>T	c.(3049-3051)Att>Ttt	p.I1017F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1017						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I1017F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAAAAAAATTTCCTTGAAG	0.438000													22	205					0	0	0.069288	0	0
CTCF	10664	broad.mit.edu	37	16	67662413	67662413	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:67662413G>T	ENST00000264010.4	+	9	2103	c.1659G>T	c.(1657-1659)gcG>gcT	p.A553A	CTCF_ENST00000401394.1_Silent_p.A225A	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	553					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.A553A(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCGTCCCTGCGGCTTTTGTCT	0.483000													22	157					1.55469e-16	2.99834e-16	0.083992	1	0
PLGLA	285189	broad.mit.edu	37	2	107004078	107004078	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:107004078C>A	ENST00000484422.1	+	0	167																											AGAAGTCCTCCATAATCATTA	0.398000													30	269					2.70662e-09	4.11068e-09	0.144211	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342383	58342383	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:58342383C>A	ENST00000371015.1	+	5	1151	c.684C>A	c.(682-684)ctC>ctA	p.L228L	PHACTR3_ENST00000359926.3_Silent_p.L225L|PHACTR3_ENST00000355648.4_Silent_p.L187L|PHACTR3_ENST00000395636.2_Silent_p.L187L|PHACTR3_ENST00000541461.1_Silent_p.L187L|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	228	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGGCCAGCTCCCCAGCCCCC	0.607000													9	38					0.000673444	0.000750674	0.069234	1	0
ANKRD55	79722	broad.mit.edu	37	5	55412488	55412488	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:55412488A>T	ENST00000341048.4	-	9	1070	c.919T>A	c.(919-921)Tac>Aac	p.Y307N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.Y264N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Y19N|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	306								p.Y307N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGACCGCAGTACAGGGCATAG	0.507000													25	133					0	0	0.116897	0	0
IL16	3603	broad.mit.edu	37	15	81592015	81592015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:81592015C>A	ENST00000394660.2	+	14	2708	c.2348C>A	c.(2347-2349)cCt>cAt	p.P783H	IL16_ENST00000302987.4_Missense_Mutation_p.P783H|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.P82H	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGAAAGGTCCTCCTGTGGCT	0.567000													7	85					0.000157383	0.000182986	0.038147	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:99640640C>A	ENST00000547776.2	-	13	1758	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167Y|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587Y|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473000													35	238					1.66425e-11	2.86817e-11	0.074837	1	0
C11orf68	83638	broad.mit.edu	37	11	65685409	65685409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:65685409C>A	ENST00000438576.2	-	2	488	c.403G>T	c.(403-405)Gtg>Ttg	p.V135L	C11orf68_ENST00000530188.1_Missense_Mutation_p.V93L|C11orf68_ENST00000449692.3_Missense_Mutation_p.V134L			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	93								p.V135L(2)|p.V93L(2)		large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		AGGCCCTGCACGTCCCCGGAG	0.657000													5	51					0.000442599	0.000502578	0.058154	1	0
ANKEF1	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:10030593A>G	ENST00000378380.3	+	6	1705	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.Y459C(2)									ATTGAGACCTACAAGAATGTC	0.463000													21	155					0	0	0.049695	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342384	58342384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:58342384C>A	ENST00000371015.1	+	5	1152	c.685C>A	c.(685-687)Ccc>Acc	p.P229T	PHACTR3_ENST00000359926.3_Missense_Mutation_p.P226T|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P188T|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P188T|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P188T|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	229	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGGCCAGCTCCCCAGCCCCCC	0.607000													9	37					0.000673444	0.000750674	0.069234	1	0
PAX1	5075	broad.mit.edu	37	20	21695369	21695369	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:21695369C>A	ENST00000398485.2	+	5	1587	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	511					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.P417P(1)|p.P511P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGGCCCAGCCCTGCCTCTGGC	0.652000													5	30					0.000602214	0.000677491	0.014758	1	0
RNF150	57484	broad.mit.edu	37	4	141888839	141888839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:141888839C>A	ENST00000420921.2	-	3	338	c.250G>T	c.(250-252)Gca>Tca	p.A84S	RNF150_ENST00000507500.1_Missense_Mutation_p.A225S|RNF150_ENST00000515673.1_Missense_Mutation_p.A225S|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000379512.2_Missense_Mutation_p.A84S			Q9ULK6	RN150_HUMAN	ring finger protein 150	225	PA.					integral to membrane	zinc ion binding	p.A225S(2)|p.A134S(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACGAGCCATGCGAGGGAAATG	0.423000													19	119					1.33834e-09	2.05833e-09	0.043863	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281203	49281203	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:49281203G>C	ENST00000282018.3	+	1	253	c.250G>C	c.(250-252)Gat>Cat	p.D84H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	84					immune response	integral to membrane|plasma membrane		p.D84H(2)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GGCCATTTCAGATCTCCTGTT	0.443000													17	139					0	0	0.146539	0	0
FAT4	79633	broad.mit.edu	37	4	126240206	126240206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:126240206C>A	ENST00000394329.3	+	1	2653	c.2640C>A	c.(2638-2640)aaC>aaA	p.N880K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	880	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N880K(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTATGGTTAACATAACAGTTA	0.448000													12	67					5.50884e-06	6.82983e-06	0.093190	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36250716	36250716	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:36250716G>T	ENST00000315571.5	+	6	828	c.807G>T	c.(805-807)gcG>gcT	p.A269A	LDLRAD3_ENST00000528989.1_Silent_p.A220A|LDLRAD3_ENST00000524419.1_Silent_p.A259A	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	269						integral to membrane	receptor activity	p.A269A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACAGGCCTGCGTGGTATGACC	0.592000													30	204					2.61193e-14	4.80833e-14	0.144211	1	0
CTCF	10664	broad.mit.edu	37	16	67663408	67663408	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:67663408C>T	ENST00000264010.4	+	10	2253	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	CTCF_ENST00000401394.1_Silent_p.R275R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	603					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R603R(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAAGATGCGCTCTAAGAAAG	0.448000													5	97					0	0	0.021553	0	0
POF1B	79983	broad.mit.edu	37	X	84606415	84606415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:84606415C>T	ENST00000262753.4	-	5	626	c.481G>A	c.(481-483)Gga>Aga	p.G161R	POF1B_ENST00000373145.3_Missense_Mutation_p.G161R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	161							actin binding	p.G161R(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACATTGTTTCCTGGGAAGAAA	0.284000													9	95					0	0	0.047766	0	0
KCNA2	3737	broad.mit.edu	37	1	111146525	111146525	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:111146525G>A	ENST00000485317.1	-	3	1553	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	KCNA2_ENST00000440270.1_Missense_Mutation_p.R294C|KCNA2_ENST00000369770.3_Missense_Mutation_p.R294C|KCNA2_ENST00000316361.4_Missense_Mutation_p.R294C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	294						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R294C(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CGGATGACACGGAGGATGGCC	0.537000													11	140					0	0	0.033300	0	0
GLIPR2	152007	broad.mit.edu	37	9	36162380	36162380	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:36162380G>T	ENST00000377960.4	+	5	360	c.326G>T	c.(325-327)tGg>tTg	p.W109L	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.W83L	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	109				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane		p.W109L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GCCATGGTATGGAAGAACACC	0.567000													21	121					1.50039e-11	2.60425e-11	0.062417	1	0
LPPR5	163404	broad.mit.edu	37	1	99418685	99418685	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:99418685G>T	ENST00000370188.3	-	3	922	c.562C>A	c.(562-564)Cga>Aga	p.R188R	LPPR5_ENST00000263177.4_Silent_p.R188R	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		188						integral to membrane	hydrolase activity	p.R188R(2)									AAGGTTTTTCGGGCTCTCATG	0.423000													11	113					3.07112e-06	3.84681e-06	0.080935	1	0
RBMS2	5939	broad.mit.edu	37	12	56963712	56963712	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56963712T>C	ENST00000262031.5	+	4	417	c.322T>C	c.(322-324)Tca>Cca	p.S108P	RBMS2_ENST00000552247.2_Missense_Mutation_p.S108P|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000542360.1_5'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	108	RRM 1.				RNA processing	nucleus	nucleotide binding|RNA binding	p.S108P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGACAGCCCTTCAGCAGCACA	0.512000													18	115					0	0	0.038395	0	0
PRLR	5618	broad.mit.edu	37	5	35072726	35072726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:35072726G>T	ENST00000382002.5	-	6	920	c.494C>A	c.(493-495)aCg>aAg	p.T165K	PRLR_ENST00000511486.1_Missense_Mutation_p.T64K|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.T94K|PRLR_ENST00000348262.3_Missense_Mutation_p.T165K|PRLR_ENST00000231423.3_Missense_Mutation_p.T165K|PRLR_ENST00000342362.5_Missense_Mutation_p.T64K|PRLR_ENST00000542609.1_Missense_Mutation_p.T165K|PRLR_ENST00000513753.1_Missense_Mutation_p.T165K|PRLR_ENST00000310101.5_Missense_Mutation_p.T165K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	165	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T165K(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATACAGGAGCGTGAACCAACC	0.448000													19	168					2.39187e-15	4.50562e-15	0.049695	1	0
DPP6	1804	broad.mit.edu	37	7	154379590	154379590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:154379590G>T	ENST00000406326.1	+	6	1261	c.858G>T	c.(856-858)tgG>tgT	p.W286C	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.W286C(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATATTCCATGGAGACCCTGGC	0.577000													14	97					4.7546e-09	7.13191e-09	0.146539	1	0
DNAH9	1770	broad.mit.edu	37	17	11656186	11656186	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:11656186T>A	ENST00000262442.3	+	33	6715	c.6647T>A	c.(6646-6648)aTc>aAc	p.I2216N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2216N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2216	AAA 2 (By similarity).			I -> T (in Ref. 4; BAA21573).	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2216N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTGCCAACATCACCCATGAT	0.413000													18	99					0	0	0.062417	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531692	140531692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:140531692C>A	ENST00000231136.1	+	1	1854	c.1854C>A	c.(1852-1854)caC>caA	p.H618Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H482Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H618Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGGCGCACAATGGCGAGG	0.682000													7	33					0.0381472	0.0392787	0.038147	1	0
TMEM132B	114795	broad.mit.edu	37	12	126137133	126137133	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:126137133C>A	ENST00000299308.3	+	8	2054	c.2046C>A	c.(2044-2046)atC>atA	p.I682I	TMEM132B_ENST00000535886.1_Silent_p.I194I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	682						integral to membrane		p.I682I(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGGGCCATCGTCTCCACAG	0.607000													17	63					1.2644e-06	1.61711e-06	0.055883	1	0
UTP18	51096	broad.mit.edu	37	17	49357467	49357467	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:49357467G>T	ENST00000225298.7	+	8	1170		c.e8+1			NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)						rRNA processing	nucleolus		p.?(2)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AGCAATGAAGGTAAAGCATTA	0.413000													5	53					0.00116845	0.00128476	0.021553	1	0
RASA1	5921	broad.mit.edu	37	5	86672763	86672763	+	Silent	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:86672763A>T	ENST00000456692.2	+	17	1834	c.1719A>T	c.(1717-1719)acA>acT	p.T573T	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Silent_p.T583T|RASA1_ENST00000274376.6_Silent_p.T750T|RASA1_ENST00000506290.1_Silent_p.T584T	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	750	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.T750T(2)|p.T573T(2)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGACCGAACACTACTGGCCA	0.368000													22	137					0	0	0.076483	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519214	137519214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:137519214G>A	ENST00000367739.4	-	7	1545	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	IFNGR1_ENST00000543628.1_Missense_Mutation_p.S447F	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	475					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	p.S475F(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACCAATCAAGGACTCTTTACC	0.413000													17	173					0	0	0.033300	0	0
IGHG3	3502	broad.mit.edu	37	14	106235600	106235600	+	RNA	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:106235600T>A	ENST00000390551.2	-	0	1106																											AGGGAGAGGCTCTTCTGCGTG	0.632000													6	57					0	0	0.069234	0	0
OR6F1	343169	broad.mit.edu	37	1	247875730	247875730	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:247875730T>A	ENST00000302084.2	-	1	375	c.328A>T	c.(328-330)Aca>Tca	p.T110S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110S(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGTACTCTGTGCAGCCTAAT	0.498000													26	77					0	0	0.091800	0	0
MC5R	4161	broad.mit.edu	37	18	13826463	13826463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr18:13826463C>A	ENST00000324750.3	+	1	921	c.699C>A	c.(697-699)agC>agA	p.S233R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	233				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.S233R(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGAGGACCAGCATGCAGGGCG	0.612000													40	181					2.52637e-11	4.3233e-11	0.080422	1	0
FZD3	7976	broad.mit.edu	37	8	28385432	28385432	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:28385432T>A	ENST00000240093.3	+	5	1633	c.1155T>A	c.(1153-1155)gtT>gtA	p.V385V	FZD3_ENST00000537916.1_Silent_p.V385V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	385					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.V385V(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGTGGTAGTTGGGGTTTCTC	0.398000													31	168					0	0	0.050027	0	0
SMG1	23049	broad.mit.edu	37	16	18881188	18881188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:18881188G>C	ENST00000446231.2	-	19	3033	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	SMG1_ENST00000389467.3_Missense_Mutation_p.S874C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	874	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S870C(2)|p.S874C(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTCTATGAGAGTTCCCATA	0.318000													6	41					0	0	0.038147	0	0
PDE7A	5150	broad.mit.edu	37	8	66635829	66635829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:66635829C>A	ENST00000401827.3	-	12	1633	c.1190G>T	c.(1189-1191)gGt>gTt	p.G397V	PDE7A_ENST00000379419.4_Missense_Mutation_p.G371V|PDE7A_ENST00000396642.3_Missense_Mutation_p.G397V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	397	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.G371V(1)|p.G397V(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	TGGACTCACACCCAAATGATA	0.294000													6	70					0.00307968	0.00332605	0.038147	1	0
RALA	5898	broad.mit.edu	37	7	39730128	39730128	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:39730128G>T	ENST00000005257.2	+	3	642	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	88					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	p.G88W(2)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AAGTGGGGAGGGGTTCCTCTG	0.458000													16	85					1.15088e-07	1.55368e-07	0.146539	1	0
LCN2	3934	broad.mit.edu	37	9	130911883	130911883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:130911883C>A	ENST00000540948.1	+	1	152	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	LCN2_ENST00000373013.2_Missense_Mutation_p.L27M|LCN2_ENST00000373017.1_Missense_Mutation_p.L27M|LCN2_ENST00000372998.1_Missense_Mutation_p.L27M|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.L27M			P80188	NGAL_HUMAN	lipocalin 2	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.L27M(2)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CACCTCAGACCTGATCCCAGC	0.642000													27	75					1.04121e-07	1.46251e-07	0.108266	1	0
NOTCH4	4855	broad.mit.edu	37	6	32187987	32187987	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:32187987G>A	ENST00000375023.3	-	7	1372	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	412	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L412F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCCTGTGAGGGGGTTGGTG	0.627000													5	62					0	0	0.058154	0	0
SNX18	112574	broad.mit.edu	37	5	53814755	53814755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:53814755G>T	ENST00000343017.6	+	1	1167	c.973G>T	c.(973-975)Gag>Tag	p.E325*	SNX18_ENST00000326277.3_Nonsense_Mutation_p.E325*|SNX18_ENST00000381410.4_Nonsense_Mutation_p.E325*	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	325	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.E325*(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCGCCTGGCGGAGAAGTTCCC	0.632000													7	32					0.0381472	0.0392787	0.038147	1	0
ANKRD55	79722	broad.mit.edu	37	5	55439661	55439661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:55439661T>A	ENST00000341048.4	-	7	730	c.579A>T	c.(577-579)aaA>aaT	p.K193N	ANKRD55_ENST00000513241.2_Missense_Mutation_p.K164N|ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	192								p.K193N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTTTAAAGTCTTTATCCACAA	0.502000													50	301					0	0	0.139131	0	0
WNT7B	7477	broad.mit.edu	37	22	46319087	46319087	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:46319087G>C	ENST00000339464.4	-	4	1073	c.699C>G	c.(697-699)aaC>aaG	p.N233K	WNT7B_ENST00000409496.3_Missense_Mutation_p.N237K|WNT7B_ENST00000410089.1_Missense_Mutation_p.N217K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	233					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.N233K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GCACGGCCGCGTTGTACTTCT	0.642000													4	28					0	0	0.058154	0	0
CNTRL	11064	broad.mit.edu	37	9	123920082	123920082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:123920082G>T	ENST00000373855.1	+	29	4821	c.4561G>T	c.(4561-4563)Gaa>Taa	p.E1521*	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.E1521*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.E969*			Q7Z7A1	CNTRL_HUMAN	centriolin	1521					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.E1521*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AATCTTGAAAGAAATAAACAA	0.408000													21	112					1.01871e-10	1.69553e-10	0.049695	1	0
NLRP8	126205	broad.mit.edu	37	19	56467169	56467169	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:56467169G>T	ENST00000291971.3	+	3	1816	c.1745G>T	c.(1744-1746)gGt>gTt	p.G582V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G582V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	582						cytoplasm	ATP binding	p.G582V(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTCTTTCGGTAATAAGAGG	0.478000													12	44					1.08611e-07	1.48272e-07	0.080935	1	0
OR2T2	401992	broad.mit.edu	37	1	248616371	248616371	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248616371G>T	ENST00000342927.3	+	1	295	c.273G>T	c.(271-273)aaG>aaT	p.K91N		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K91N(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAAGGACAAGACCATTTCCT	0.522000													47	301					1.38814e-16	2.69854e-16	0.139131	1	0
PAPLN	89932	broad.mit.edu	37	14	73725989	73725989	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:73725989A>G	ENST00000427855.1	+	16	1823	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	PAPLN_ENST00000554301.1_Missense_Mutation_p.Q574R|PAPLN_ENST00000555445.1_Missense_Mutation_p.Q574R|PAPLN_ENST00000381166.3_Missense_Mutation_p.Q574R|PAPLN_ENST00000340738.5_Missense_Mutation_p.Q547R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	574						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.Q547R(2)|p.Q574R(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCAGAGGCCAGTGGTGGGCA	0.647000													7	143					0	0	0.069234	0	0
CSN2	1447	broad.mit.edu	37	4	70823356	70823356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:70823356G>C	ENST00000353151.3	-	5	322	c.311C>G	c.(310-312)gCt>gGt	p.A104G		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	104					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	p.A104G(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGTGTCTTTAGCTTTAGGGAC	0.463000													16	123					0	0	0.043863	0	0
ZIC3	7547	broad.mit.edu	37	X	136649500	136649500	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:136649500C>G	ENST00000287538.5	+	1	1200	c.650C>G	c.(649-651)cCt>cGt	p.P217R	ZIC3_ENST00000370606.3_Missense_Mutation_p.P217R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	217			P -> A (in a patient with atrial septal defect and pulmonic stenosis not associated with heterotaxy; lacks DNA- binding; does not inhibit transcriptional activation and interaction with GLI3).		cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P217R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTTCCTAACTACAGC	0.662000													6	55					0	0	0.029380	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132563	91132563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:91132563G>T	ENST00000373094.1	+	2	2169	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	PCDH11X_ENST00000361724.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G442C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G442C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	442	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.G442C(6)|p.G442R(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGATGCTGGCAAACCTCC	0.408000													23	95					8.16721e-17	1.60051e-16	0.045705	1	0
OR6K6	128371	broad.mit.edu	37	1	158724748	158724748	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158724748C>A	ENST00000368144.2	+	1	239	c.143C>A	c.(142-144)gCg>gAg	p.A48E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A48E(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTCCCGCATGCGCACAGAGGT	0.453000													33	277					9.17885e-22	1.89022e-21	0.059317	1	0
TAF4	6874	broad.mit.edu	37	20	60575248	60575248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:60575248G>A	ENST00000252996.3	-	11	2718	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	907					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.Q907*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGCCTTTGTTGCGTGGCATGT	0.373000													19	113					0	0	0.049695	0	0
POLQ	10721	broad.mit.edu	37	3	121207151	121207151	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:121207151C>G	ENST00000264233.5	-	16	4755	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1543					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.D1678H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGTGGGTATCTTGATTCTCA	0.338000								DNA polymerases (catalytic subunits)					5	130					0	0	0.014758	0	0
COL6A6	131873	broad.mit.edu	37	3	130285781	130285781	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:130285781C>A	ENST00000358511.6	+	4	1549	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	COL6A6_ENST00000453409.2_Silent_p.I506I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	506	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.I506I(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGAGAATATCAGGCAGATGG	0.473000													24	104					2.89027e-11	4.91143e-11	0.069288	1	0
SCN3B	55800	broad.mit.edu	37	11	123508905	123508905	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:123508905G>T	ENST00000392770.2	-	4	1375	c.573C>A	c.(571-573)gcC>gcA	p.A191A	SCN3B_ENST00000299333.3_Silent_p.A191A|SCN3B_ENST00000530277.1_Silent_p.A191A	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	191					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.A191A(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CGTTTTCTTGGGCTGCCTCTT	0.448000													10	40					2.17888e-05	2.64734e-05	0.058154	1	0
INHBC	3626	broad.mit.edu	37	12	57843212	57843212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:57843212G>T	ENST00000309668.2	+	2	593	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C	INHBC_ENST00000550133.1_Missense_Mutation_p.G156C	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	156					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.G156C(2)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTTGTGCTGGGTCCACATAA	0.552000													34	162					3.21399e-22	6.73276e-22	0.074837	1	0
GALNT13	114805	broad.mit.edu	37	2	155306968	155306968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:155306968C>A	ENST00000392825.3	+	13	2143	c.1576C>A	c.(1576-1578)Cct>Act	p.P526T	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	526	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P526T(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTCGATGAACCTTCTGAAGA	0.438000													15	99					9.16793e-09	1.35019e-08	0.033300	1	0
SLC26A9	115019	broad.mit.edu	37	1	205897047	205897047	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:205897047C>T	ENST00000367135.3	-	9	1197	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	SLC26A9_ENST00000367134.2_Missense_Mutation_p.D362N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.D362N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	362						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.D362N(4)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAATCCACGTCGTAGCCGTGC	0.587000													13	108					0	0	0.146539	0	0
BRWD3	254065	broad.mit.edu	37	X	79978240	79978240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:79978240C>A	ENST00000373275.4	-	17	1913	c.1697G>T	c.(1696-1698)cGt>cTt	p.R566L		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	566								p.R566L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTGGCATCACGAATAAGAGG	0.393000													15	134					0.00316338	0.00340133	0.132662	1	0
NUP210	23225	broad.mit.edu	37	3	13427851	13427851	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:13427851C>A	ENST00000254508.5	-	6	823	c.741G>T	c.(739-741)ccG>ccT	p.P247P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	247					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P247P(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGTCATAGGCCGGGTTCAGAA	0.493000													25	157					3.7963e-18	7.50002e-18	0.083992	1	0
POLR3B	55703	broad.mit.edu	37	12	106821053	106821053	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:106821053A>T	ENST00000228347.4	+	13	1402	c.1180A>T	c.(1180-1182)Aag>Tag	p.K394*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.K336*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	394					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.K394*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGATTCCTAAGCAAAGAGC	0.363000													9	103					0	0	0.047766	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204375279	204375279	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:204375279T>C	ENST00000367188.4	-	2	2462	c.2083A>G	c.(2083-2085)Atg>Gtg	p.M695V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	695					regulation of translation			p.M695V(2)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTATTAAACATTCTTTCTCTG	0.403000													69	176					0	0	0.139131	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028081	44028081	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:44028081C>T	ENST00000262726.7	-	19	2389	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	EFCAB6_ENST00000396231.2_Silent_p.Q560Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.Q712Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGTTGGAGGCTGCGGCGGAG	0.483000													13	100					0	0	0.093190	0	0
ZNF251	90987	broad.mit.edu	37	8	145948533	145948533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:145948533C>A	ENST00000292562.7	-	5	787	c.512G>T	c.(511-513)gGc>gTc	p.G171V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G128V(2)|p.G171V(2)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTTTCCCTGCCCACGGTAGC	0.433000													31	172					3.86903e-22	8.03567e-22	0.054565	1	0
PCBP2	5094	broad.mit.edu	37	12	53853102	53853102	+	Missense_Mutation	SNP	C	C	T	rs111807426		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:53853102C>T	ENST00000603815.1	+	6	640	c.290C>T	c.(289-291)cCg>cTg	p.P97L	PCBP2_ENST00000549863.1_Missense_Mutation_p.P97L|PCBP2_ENST00000548933.1_Missense_Mutation_p.P97L|PCBP2_ENST00000546463.1_Missense_Mutation_p.P97L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Missense_Mutation_p.P97L|PCBP2_ENST00000455667.3_Missense_Mutation_p.P97L|PCBP2_ENST00000447282.1_Missense_Mutation_p.P97L|PCBP2_ENST00000439930.3_Missense_Mutation_p.P97L|PCBP2_ENST00000437231.1_Missense_Mutation_p.P97L|PCBP2_ENST00000359462.5_Missense_Mutation_p.P97L|PCBP2_ENST00000359282.5_Missense_Mutation_p.P97L|PCBP2_ENST00000552819.1_Missense_Mutation_p.P97L|PCBP2_ENST00000552296.2_Missense_Mutation_p.P97L	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	97	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.P97L(2)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGTAGACCCCCGGTCACCCTG	0.488000													13	95					0	0	0.055883	0	0
CSF1R	1436	broad.mit.edu	37	5	149449602	149449602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:149449602C>A	ENST00000286301.3	-	10	1635	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	448	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Q448H(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATCCCAGACCTGCAGCACTT	0.587000													12	69					1.05317e-09	1.6511e-09	0.119110	1	0
CASR	846	broad.mit.edu	37	3	122002991	122002991	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:122002991C>A	ENST00000498619.1	+	7	2658	c.2220C>A	c.(2218-2220)ctC>ctA	p.L740L	CASR_ENST00000296154.5_Silent_p.L730L|CASR_ENST00000490131.1_Silent_p.L730L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	730					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L730L(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTTTTCCTCTGCACCTTCA	0.557000													8	61					0.00307968	0.00332605	0.038147	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690667	77690667	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:77690667A>T	ENST00000521891.2	+	4	3765	c.3317A>T	c.(3316-3318)aAt>aTt	p.N1106I	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N1080I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N1080I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N1080I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1080						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1106I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCACCAAATGAGCTTGGT	0.532000										HNSCC(33;0.089)			17	121					0	0	0.146539	0	0
UNC5D	137970	broad.mit.edu	37	8	35608274	35608274	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:35608274C>G	ENST00000287272.2	+	12	1923	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	UNC5D_ENST00000420357.1_Missense_Mutation_p.L637V|UNC5D_ENST00000416672.1_Missense_Mutation_p.L709V|UNC5D_ENST00000453357.2_Missense_Mutation_p.L699V|UNC5D_ENST00000404895.2_Missense_Mutation_p.L704V|UNC5D_ENST00000449677.1_Missense_Mutation_p.L280V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	704	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.L699V(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGTAACTCCCTGGATTACAA	0.458000													41	228					0	0	0.117977	0	0
SOD2	6648	broad.mit.edu	37	6	160103667	160103667	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:160103667A>C	ENST00000538183.1	-	5	687	c.527T>G	c.(526-528)cTt>cGt	p.L176R	SOD2_ENST00000367054.2_Missense_Mutation_p.L137R|SOD2_ENST00000367055.4_Missense_Mutation_p.L176R|SOD2_ENST00000337404.4_Missense_Mutation_p.L137R|SOD2_ENST00000444946.2_Missense_Mutation_p.L116R|SOD2_ENST00000546087.1_Missense_Mutation_p.L130R	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	176					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	p.L176R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CAGTGGAATAAGGCCTGTTAG	0.368000													5	62					0	0	0.014758	0	0
HTR2C	3358	broad.mit.edu	37	X	114141816	114141816	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:114141816T>A	ENST00000276198.1	+	6	1943	c.1215T>A	c.(1213-1215)gcT>gcA	p.A405A	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.A405A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	405					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.A405A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCGCCACTGCTTTGTCTGGGA	0.453000													25	156					0	0	0.144211	0	0
LAIR2	3904	broad.mit.edu	37	19	55014926	55014926	+	Silent	SNP	G	G	T	rs151276812		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:55014926G>T	ENST00000301202.2	+	2	167	c.45G>T	c.(43-45)ctG>ctT	p.L15L	LAIR2_ENST00000351841.2_Silent_p.L15L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	15						extracellular region	receptor activity	p.L15L(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TGCTCTGCCTGGCCCAGACCA	0.607000													5	73					0.0215528	0.0224778	0.021553	1	0
IRAK4	51135	broad.mit.edu	37	12	44180315	44180315	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:44180315T>C	ENST00000431837.1	+	10	1238	c.930T>C	c.(928-930)agT>agC	p.S310S	IRAK4_ENST00000551736.1_Silent_p.S434S|IRAK4_ENST00000440781.2_Silent_p.S310S|IRAK4_ENST00000448290.2_Silent_p.S434S	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	434	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S434S(2)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTGTTGCTAGTCAATGTCTGC	0.308000													18	176					0	0	0.055883	0	0
PAK7	57144	broad.mit.edu	37	20	9561009	9561009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:9561009C>A	ENST00000378429.3	-	5	1319	c.773G>T	c.(772-774)gGa>gTa	p.G258V	PAK7_ENST00000353224.5_Missense_Mutation_p.G258V|PAK7_ENST00000378423.1_Missense_Mutation_p.G258V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	258	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G258V(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGGCTGGGTCCCCATTCACT	0.562000													10	106					0.00829132	0.00875996	0.069234	1	0
SERPINA12	145264	broad.mit.edu	37	14	94964180	94964180	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:94964180G>T	ENST00000341228.2	-	3	1350	c.555C>A	c.(553-555)acC>acA	p.T185T	SERPINA12_ENST00000556881.1_Silent_p.T185T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	185					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T185T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCCCATGGGTTTTTTGAC	0.398000													30	183					1.08312e-15	2.05624e-15	0.144211	1	0
ARPP21	10777	broad.mit.edu	37	3	35835224	35835224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:35835224C>A	ENST00000187397.4	+	20	2669	c.2213C>A	c.(2212-2214)cCc>cAc	p.P738H	ARPP21_ENST00000458225.1_Missense_Mutation_p.P739H|ARPP21_ENST00000337271.5_Missense_Mutation_p.P719H|ARPP21_ENST00000417925.1_Missense_Mutation_p.P739H|ARPP21_ENST00000444190.1_Missense_Mutation_p.P719H|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	738	Gln-rich.					cytoplasm	nucleic acid binding	p.P738H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAAGGACTGCCCCAGCAGTCA	0.488000													9	67					1.12685e-05	1.38997e-05	0.047766	1	0
PHF20L1	51105	broad.mit.edu	37	8	133823374	133823374	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:133823374G>T	ENST00000395374.1	+	3	702	c.448G>T	c.(448-450)Gta>Tta	p.V150L	PHF20L1_ENST00000337920.4_Missense_Mutation_p.V285L|PHF20L1_ENST00000395383.1_Splice_Site|PHF20L1_ENST00000315808.10_Splice_Site|PHF20L1_ENST00000220847.7_Splice_Site|PHF20L1_ENST00000395379.1_Missense_Mutation_p.V311L|PHF20L1_ENST00000395386.2_Splice_Site|PHF20L1_ENST00000395376.1_Missense_Mutation_p.V316L|PHF20L1_ENST00000395382.3_Splice_Site|PHF20L1_ENST00000395390.2_Splice_Site			A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	0							nucleic acid binding|zinc ion binding	p.?(4)|p.V285L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCTGGAGCAGGTATGAAATGG	0.403000													14	105					4.3838e-07	5.75818e-07	0.105934	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409316	56409316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:56409316G>T	ENST00000544374.1	-	1	631	c.603C>A	c.(601-603)ttC>ttA	p.F201L	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F200L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200L(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CAATGCCATTGAAGTGGGTAT	0.423000													30	192					4.62619e-21	9.44676e-21	0.069456	1	0
GABRR1	2569	broad.mit.edu	37	6	89891759	89891759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:89891759A>T	ENST00000435811.1	-	7	1217	c.763T>A	c.(763-765)Tac>Aac	p.Y255N	GABRR1_ENST00000369451.3_Missense_Mutation_p.Y185N|GABRR1_ENST00000454853.2_Missense_Mutation_p.Y272N	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y266N(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AAATTAATGTAGAGACGGTTG	0.448000													8	85					0	0	0.058154	0	0
RIPK1	8737	broad.mit.edu	37	6	3105762	3105762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:3105762G>T	ENST00000259808.4	+	9	1351	c.1053G>T	c.(1051-1053)atG>atT	p.M351I	RIPK1_ENST00000380409.2_Missense_Mutation_p.M351I|RIPK1_ENST00000541791.1_Missense_Mutation_p.M305I|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	351	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.M351I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GACTTGGGATGGGTCCTGTGG	0.493000													37	306					2.04263e-09	3.12176e-09	0.069456	1	0
FMN2	56776	broad.mit.edu	37	1	240370817	240370817	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:240370817T>G	ENST00000319653.9	+	5	2935	c.2705T>G	c.(2704-2706)cTg>cGg	p.L902R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	902	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.L1045R(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCTCTGCAGGGTACA	0.662000													13	103					0	0	0.069288	0	0
OR2T6	254879	broad.mit.edu	37	1	248551409	248551409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248551409C>A	ENST00000355728.2	+	1	500	c.500C>A	c.(499-501)cCg>cAg	p.P167Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167Q(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGTCTCCCGTTCTGTGCC	0.537000													12	46					1.08611e-07	1.48272e-07	0.080935	1	0
SLC17A8	246213	broad.mit.edu	37	12	100787197	100787197	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:100787197C>T	ENST00000323346.5	+	4	837	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P175L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	175					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.P175L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGTTTATTCCCTCTGCAGCC	0.463000													7	102					0	0	0.069234	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60990964	60990964	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:60990964C>T	ENST00000252998.1	-	7	580	c.424G>A	c.(424-426)Gac>Aac	p.D142N		NM_080833.2	NP_543023.2			RBBP8 N-terminal like									p.D142N(1)									GAGGGGGGGTCCGAGGTGCCC	0.662000													3	10					0	0	0.115264	0	0
JADE3	9767	broad.mit.edu	37	X	46918161	46918161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:46918161G>T	ENST00000218343.4	+	11	2452	c.2154G>T	c.(2152-2154)gaG>gaT	p.E718D	PHF16_ENST00000397189.1_Missense_Mutation_p.E718D	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		718					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.E718D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCTTTAAAGAGACCACCAATA	0.498000													10	57					0.000442599	0.000502578	0.058154	1	0
SNHG14	104472715	broad.mit.edu	37	15	25486828	25486828	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:25486828C>A	ENST00000453082.2	+	0	2147					NR_003343.1																						GTCTTCTGCACTAAGCTGTGG	0.542000													16	85					6.72482e-11	1.13481e-10	0.132662	1	0
BRINP3	339479	broad.mit.edu	37	1	190423996	190423996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:190423996C>A	ENST00000367462.3	-	2	256	c.25G>T	c.(25-27)Gct>Tct	p.A9S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		9						extracellular region		p.A9S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACAATTCAGCACCAGCTCTG	0.478000													17	53					8.10497e-08	1.14506e-07	0.055883	1	0
OR2A5	393046	broad.mit.edu	37	7	143748277	143748277	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:143748277C>A	ENST00000408906.2	+	1	817	c.783C>A	c.(781-783)gcC>gcA	p.A261A		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261A(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTACATGGCCCCCAAGTCCC	0.572000													14	127					7.07596e-05	8.47024e-05	0.038395	1	0
CUL9	23113	broad.mit.edu	37	6	43152465	43152465	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:43152465G>A	ENST00000252050.4	+	2	501	c.417G>A	c.(415-417)acG>acA	p.T139T	CUL9_ENST00000372647.2_Silent_p.T139T|CUL9_ENST00000354495.3_Silent_p.T139T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	139					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.T139T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCCTCACGGCCGCTGTGC	0.637000													4	61					0	0	0.105934	0	0
SNRNP200	23020	broad.mit.edu	37	2	96954407	96954407	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:96954407G>A	ENST00000323853.5	-	24	3329	c.3252C>T	c.(3250-3252)gtC>gtT	p.V1084V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1084	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.V1084V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCACCTGTGTGACATACACCA	0.517000													12	83					0	0	0.105934	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826167	83826167	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:83826167C>A	ENST00000299633.4	-	4	1062	c.459_splice	c.e4+1	p.K153_splice		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		153					cell proliferation	nucleus	growth factor activity	p.K153N(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTTAGTAACCTTTGAAGTAT	0.308000													10	90					0.00010058	0.000119224	0.093190	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538888	27538888	+	RNA	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:27538888G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGCAGTCTGTGGATGCTCA	0.498000													22	143					0	0	0.076483	0	0
CFTR	1080	broad.mit.edu	37	7	117232483	117232483	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:117232483G>A	ENST00000003084.6	+	14	2394	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V	CFTR_ENST00000454343.1_Silent_p.V693V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	754			V -> M (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.V754V(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCATCAGCGTGATCAGCACTG	0.517000									Cystic Fibrosis				8	34					0	0	0.038147	0	0
NETO1	81832	broad.mit.edu	37	18	70417550	70417550	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr18:70417550C>G	ENST00000327305.6	-	9	1945	c.1288G>C	c.(1288-1290)Gac>Cac	p.D430H	NETO1_ENST00000299430.2_Missense_Mutation_p.D429H|NETO1_ENST00000583169.1_Missense_Mutation_p.D430H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	430					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.D430H(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGTGATGGTCATGAATGCAT	0.493000													13	61					0	0	0.093190	0	0
PLXNB1	5364	broad.mit.edu	37	3	48457786	48457786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:48457786C>A	ENST00000358536.4	-	17	3718	c.3449G>T	c.(3448-3450)cGt>cTt	p.R1150L	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R967L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R967L|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1150L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1150	IPT/TIG 1.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.R1150L(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGAGACACCACGTCCTCTTCC	0.667000													12	60					1.5842e-08	2.31904e-08	0.105934	1	0
SLC9A9	285195	broad.mit.edu	37	3	142985602	142985602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:142985602C>A	ENST00000316549.6	-	16	2088	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G627V(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCCTCCCAGGCCGAGGTCTCC	0.498000													25	127					9.04412e-07	1.16282e-06	0.099896	1	0
PTPRN2	5799	broad.mit.edu	37	7	157475536	157475536	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:157475536C>A	ENST00000389413.3	-	12	1898	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	PTPRN2_ENST00000409483.1_Missense_Mutation_p.G590C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G611C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G628C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G651C	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	628						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G628C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGACGCCCAGGATGCAG	0.607000													8	87					0.000442599	0.000502578	0.058154	1	0
MUC16	94025	broad.mit.edu	37	19	9061615	9061615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9061615G>T	ENST00000397910.4	-	3	26034	c.25831C>A	c.(25831-25833)Cct>Act	p.P8611T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8613	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8611T(4)|p.P4244T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTTCAGGTTCTGAGCTT	0.483000													11	82					0.000978159	0.00108535	0.080935	1	0
MKRN3	7681	broad.mit.edu	37	15	23811566	23811566	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:23811566C>G	ENST00000314520.3	+	1	1113	c.637C>G	c.(637-639)Cgg>Ggg	p.R213G	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	213						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R213G(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCAGCCCTACCGGGGCCGCTG	0.587000													5	33					0	0	0.021553	0	0
TRPM1	4308	broad.mit.edu	37	15	31362381	31362381	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:31362381A>T	ENST00000542188.1	-	3	496	c.183T>A	c.(181-183)agT>agA	p.S61R	TRPM1_ENST00000397795.2_Missense_Mutation_p.S22R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S22R|TRPM1_ENST00000256552.6_Missense_Mutation_p.S44R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	22					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S22R(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGGTGTTGCACTTGGCAGAG	0.512000													54	455					0	0	0.139131	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740865	135740865	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:135740865G>T	ENST00000392915.1	-	9	3429	c.3310C>A	c.(3310-3312)Cag>Aag	p.Q1104K	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron					mitogen-activated protein kinase kinase kinase 19																		ATATTCAGCTGTTgaaggaag	0.408000													21	134					3.62473e-10	5.83318e-10	0.062417	1	0
KIF9	64147	broad.mit.edu	37	3	47288896	47288896	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:47288896C>T	ENST00000335044.2	-	12	1557	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	KIF9_ENST00000452770.2_Silent_p.R400R|KIF9_ENST00000444589.2_Silent_p.R400R|KIF9_ENST00000265529.3_Silent_p.R400R|KIF9_ENST00000352910.4_Silent_p.R307R|KIF9_ENST00000487440.1_5'UTR	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	400					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R400R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGTACCTCCGCACCTGGG	0.557000													14	121					0	0	0.132662	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034546	95034546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:95034546G>T	ENST00000557004.1	+	4	1425	c.1004G>T	c.(1003-1005)aGg>aTg	p.R335M	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R335M|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R335M|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	335					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R335M(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATTTTGCCCAGGCTGGGCTTC	0.458000													45	191					4.44401e-20	8.92475e-20	0.117977	1	0
OR4A47	403253	broad.mit.edu	37	11	48510590	48510590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:48510590C>A	ENST00000446524.1	+	1	322	c.246C>A	c.(244-246)ggC>ggA	p.G82G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	82			G -> D (in dbSNP:rs12805819).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G82G(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGATTTCAGGCTTGTTCTTTG	0.428000													27	178					7.26314e-15	1.35765e-14	0.125774	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885288	24885288	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:24885288G>T	ENST00000382554.3	+	9	4651	c.4333G>T	c.(4333-4335)Gcc>Tcc	p.A1445S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1445					DNA integration	integral to membrane	DNA binding	p.A1445S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGACACCCTGGCCAAGCAGGG	0.582000													10	55					9.70103e-10	1.54075e-09	0.069234	1	0
TPTEP1	387590	broad.mit.edu	37	22	17119520	17119520	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:17119520C>A	ENST00000426585.1	+	0	332																											TCCTTGCCGACCTAATTTTCA	0.328000													10	154					9.05144e-12	1.25137e-11	1	1	0
HTR2C	3358	broad.mit.edu	37	X	114141816	114141816	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:114141816T>A	ENST00000276198.1	+	6	1943	c.1215T>A	c.(1213-1215)gcT>gcA	p.A405A	HTR2C_ENST00000371951.1_Silent_p.A405A|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	405					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.A405A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCGCCACTGCTTTGTCTGGGA	0.453000													28	115					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27209238	27209238	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:27209238C>T	ENST00000394906.2	-	9	839	c.762G>A	c.(760-762)aaG>aaA	p.K254K	FLOT2_ENST00000394908.4_Silent_p.K199K|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.K199K			Q14254	FLOT2_HUMAN	flotillin 2	199					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		p.K199K(2)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAGCATCTCCTTCTTGCACT	0.522000													14	118					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53581722	53581722	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:53581722G>C	ENST00000342160.3	-	60	8823	c.8366C>G	c.(8365-8367)tCt>tGt	p.S2789C	HUWE1_ENST00000262854.6_Missense_Mutation_p.S2789C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2789					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.S2789C(1)|p.S2667C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAGCTGGAGACTGCAGCTC	0.557000													8	115					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625667	65625667	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:65625667C>T	ENST00000327987.4	-	6	1161	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	304	Ig-like C2-type 3.							p.V304I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGACGTAGACGCCAGAGTGC	0.627000													6	31					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220652	118220652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:118220652C>A	ENST00000402510.2	-	11	4540	c.4541G>T	c.(4540-4542)aGg>aTg	p.R1514M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1514								p.R1514M(2)|p.R1338M(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTATGTCCCCTGCCTACAGA	0.502000													21	60					1.9806e-07	2.34155e-07	1	1	0
NIT1	4817	broad.mit.edu	37	1	161088937	161088937	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:161088937G>T	ENST00000368008.1	+	3	171	c.112G>T	c.(112-114)Gct>Tct	p.A38S	NIT1_ENST00000368007.4_Missense_Mutation_p.A23S|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368009.2_Missense_Mutation_p.A38S|NIT1_ENST00000392190.5_Missense_Mutation_p.A2S	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	38					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGAGCCATGGCTATCTCCTC	0.512000													12	92					3.27435e-08	4.00905e-08	1	1	0
CPOX	1371	broad.mit.edu	37	3	98311879	98311879	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:98311879A>T	ENST00000264193.2	-	1	688	c.470T>A	c.(469-471)cTg>cAg	p.L157Q		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	157						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	p.L157Q(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTGGGTCTCCAGAATCAGCAG	0.657000													4	3					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:125298619G>C	ENST00000538699.1	-	2	1369	c.1289C>G	c.(1288-1290)gCg>gGg	p.A430G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A430G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602000													20	142					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26667141	26667141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:26667141G>T	ENST00000288710.2	+	9	1154	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.K360N(2)									AGCAAATAAAGCAGTTTCAGG	0.408000													16	78					0.000132079	0.000145921	1	1	0
BOC	91653	broad.mit.edu	37	3	112993283	112993283	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:112993283C>A	ENST00000495514.1	+	9	2000	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	BOC_ENST00000273395.4_Silent_p.P432P|BOC_ENST00000355385.3_Silent_p.P432P			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	432					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.P432P(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGTATCACCCTCCAAACTCG	0.607000													11	88					0.000673444	0.000718909	1	1	0
RBM10	8241	broad.mit.edu	37	X	47044719	47044719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:47044719C>T	ENST00000377604.3	+	19	2861	c.2119C>T	c.(2119-2121)Cag>Tag	p.Q707*	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q629*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q630*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	707					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.Q707*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGCCGAGAGACAGCACACCAG	0.632000													3	13					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618088	111618088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:111618088C>T	ENST00000374667.3	-	1	1151	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	41						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.M41I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTGGGCTTCATCTTGAGCT	0.657000													10	94					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517245	20517245	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:20517245C>T	ENST00000375099.3	+	2	275	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	64								p.P64L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CATCATATACCATCTCCGCCT	0.537000													24	151					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719632	140719632	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:140719632T>C	ENST00000394576.2	+	1	1094	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.I365T(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCATAATTGGGCTT	0.428000													23	177					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96274626	96274626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:96274626G>A	ENST00000347108.3	-	7	1513	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	DZIP1_ENST00000376829.2_Missense_Mutation_p.H361Y|DZIP1_ENST00000361156.3_Missense_Mutation_p.H361Y|DZIP1_ENST00000361396.2_Missense_Mutation_p.H361Y			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	361					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.H361Y(4)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGACATTATGGAAATCCTGG	0.423000													33	335					0	0	1	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038323	117038323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:117038323G>T	ENST00000527958.1	+	6	757	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	200					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	p.G200W(2)		kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TCTGACAGGAGGGGGCTATGC	0.532000			T	IGH@	MLCLS								30	114					7.68411e-24	1.34075e-23	1	1	0
HBD	3045	broad.mit.edu	37	11	5253995	5253995	+	Missense_Mutation	SNP	C	C	A	rs35324967		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:5253995C>A	ENST00000292901.3	-	3	398	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W				P02042	HBD_HUMAN	hemoglobin, delta	0			R -> C (in Corfu/Troodos; dbSNP:rs33971270).|R -> H (in Coburg; dbSNP:rs34536353).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGTGCTCCCTATCTGTAGA	0.393000											OREG0000407	type=REGULATORY POLYMORPHISM|Gene=HBD|EvidenceSubtype=Direct gel shift	10	59					4.3838e-07	5.11107e-07	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761412	55761412	+	Silent	SNP	C	C	G	rs144082157	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:55761412C>G	ENST00000278409.1	-	1	689	c.690G>C	c.(688-690)tcG>tcC	p.S230S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCCCTCCCCCGAATGCATAG	0.478000													23	131					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618186	77618186	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:77618186G>T	ENST00000521891.2	+	2	2311	c.1863G>T	c.(1861-1863)gtG>gtT	p.V621V	ZFHX4_ENST00000455469.2_Silent_p.V621V|ZFHX4_ENST00000518282.1_Silent_p.V621V|ZFHX4_ENST00000050961.6_Silent_p.V621V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	621						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V621V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCGACACTGTGTTGGGGTCTT	0.532000										HNSCC(33;0.089)			22	133					5.45024e-15	8.15923e-15	1	1	0
ALDH5A1	7915	broad.mit.edu	37	6	24503644	24503644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:24503644G>C	ENST00000357578.3	+	3	737	c.592G>C	c.(592-594)Gct>Cct	p.A198P	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A170P|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A110P|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A198P	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	198					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.A198P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CATAGGCGTGGCTGCAGTCAT	0.567000													11	91					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960520	7960520	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:7960520G>T	ENST00000360759.3	-	1	621	c.548C>A	c.(547-549)cCg>cAg	p.P183Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183Q(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGTACCGGGGGAGTCTC	0.433000													21	152					9.95505e-16	1.51725e-15	1	1	0
FCRL1	115350	broad.mit.edu	37	1	157771827	157771827	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:157771827G>A	ENST00000358292.3	-	5	815	c.764C>T	c.(763-765)cCc>cTc	p.P255L	FCRL1_ENST00000368176.3_Missense_Mutation_p.P255L|FCRL1_ENST00000491942.1_Missense_Mutation_p.P255L|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	255	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.P255L(4)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTCCAGAGGGGGCCGACCT	0.582000													57	223					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30930520	30930520	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:30930520C>A	ENST00000597505.1	-	27	3890	c.3891G>T	c.(3889-3891)gtG>gtT	p.V1297V	DCDC1_ENST00000406071.2_Silent_p.V32V|DCDC1_ENST00000339794.5_Silent_p.V376V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.V376V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTCTTTAATCACAGATGATG	0.318000													26	142					2.09667e-21	3.53638e-21	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438759	120438759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:120438759C>A	ENST00000369400.1	-	1	359	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q67H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCCTTTTAACTGCAGTAGGT	0.542000													17	105					2.94398e-08	3.6691e-08	1	1	0
IPO7	10527	broad.mit.edu	37	11	9463643	9463643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:9463643A>G	ENST00000379719.3	+	24	3060	c.2918A>G	c.(2917-2919)aAt>aGt	p.N973S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	973					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.N973S(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAAAATCGTAATCCTGTGTGG	0.403000													21	126					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55412488	55412488	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:55412488A>T	ENST00000341048.4	-	9	1070	c.919T>A	c.(919-921)Tac>Aac	p.Y307N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.Y264N|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Y19N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	306								p.Y307N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGACCGCAGTACAGGGCATAG	0.507000													27	222					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913163	111913163	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:111913163C>A	ENST00000368761.5	-	2	605	c.127G>T	c.(127-129)Gca>Tca	p.A43S	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.A52S|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.A43S	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	52					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.A52S(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGTTGGGTGCCATGTTCCTT	0.478000													15	104					3.45872e-05	3.9065e-05	1	1	0
CAPS	828	broad.mit.edu	37	19	5915081	5915081	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:5915081G>A	ENST00000588776.1	+	4	3017	c.650G>A	c.(649-651)cGc>cAc	p.R217H	CAPS_ENST00000222125.5_Missense_Mutation_p.R131H|CAPS_ENST00000452990.2_Intron			Q13938	CAYP1_HUMAN	calcyphosine	131					intracellular signal transduction	cytoplasm	calcium ion binding	p.R131H(1)		cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						CCCAAGGTGCGCAGTGGGGAG	0.692000													4	35					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562935	179562935	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:179562935C>A	ENST00000444136.1	+	3	823	c.573C>A	c.(571-573)acC>acA	p.T191T	TDRD5_ENST00000294848.8_Silent_p.T191T|TDRD5_ENST00000367614.1_Silent_p.T191T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	191	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.T191T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGAGCAGACCAGAGCAGGTT	0.433000													69	140					9.07738e-34	1.73983e-33	1	1	0
TNC	3371	broad.mit.edu	37	9	117803262	117803262	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:117803262C>T	ENST00000350763.4	-	19	5761	c.5350G>A	c.(5350-5352)Ggc>Agc	p.G1784S	TNC_ENST00000346706.3_Missense_Mutation_p.G1238S|TNC_ENST00000537320.1_Missense_Mutation_p.G1147S|TNC_ENST00000341037.4_Missense_Mutation_p.G1602S|TNC_ENST00000423613.2_Missense_Mutation_p.G1511S|TNC_ENST00000542877.1_Missense_Mutation_p.G1421S|TNC_ENST00000340094.3_Missense_Mutation_p.G1420S|TNC_ENST00000345230.3_Missense_Mutation_p.G1147S|TNC_ENST00000535648.1_Missense_Mutation_p.G1329S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1784	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.G1784S(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCTCAAAGCCCTTCATGGCG	0.502000													59	181					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152465	43152465	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:43152465G>A	ENST00000252050.4	+	2	501	c.417G>A	c.(415-417)acG>acA	p.T139T	CUL9_ENST00000354495.3_Silent_p.T139T|CUL9_ENST00000372647.2_Silent_p.T139T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	139					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.T139T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCCTCACGGCCGCTGTGC	0.637000													13	111					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430042	78430042	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:78430042C>A	ENST00000370767.1	-	11	925		c.e11-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAATGGGGACCTTATGTAAAA	0.338000			"""F, N"""		oligodendroglioma								6	82					0.0293803	0.030094	1	1	0
OR12D2	26529	broad.mit.edu	37	6	29364990	29364990	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:29364990A>C	ENST00000383555.2	+	1	575	c.514A>C	c.(514-516)Atc>Ctc	p.I172L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I172L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCCAACCGTATCCATCATTT	0.478000													36	551					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168812877	168812877	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:168812877A>T	ENST00000464456.1	-	11	3615	c.2415T>A	c.(2413-2415)aaT>aaA	p.N805K	MECOM_ENST00000433243.2_Missense_Mutation_p.N815K|MECOM_ENST00000392736.3_Missense_Mutation_p.N814K|MECOM_ENST00000264674.3_Missense_Mutation_p.N879K|MECOM_ENST00000494292.1_Missense_Mutation_p.N993K|MECOM_ENST00000468789.1_Missense_Mutation_p.N814K|MECOM_ENST00000460814.1_Missense_Mutation_p.N805K|MECOM_ENST00000472280.1_Missense_Mutation_p.N815K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.N814K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACATGTTCCCATTCTCATGTT	0.323000													8	77					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610279	10610279	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:10610279G>A	ENST00000171111.5	-	2	978	c.431C>T	c.(430-432)tCc>tTc	p.S144F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S144F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	144	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S144F(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGGAGATGGAGGCCGTGTA	0.587000													16	42					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58110122	58110122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:58110122G>T	ENST00000357272.4	+	22	3953	c.3788G>T	c.(3787-3789)gGt>gTt	p.G1263V	FLNB_ENST00000419752.2_Missense_Mutation_p.G1094V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1263V|FLNB_ENST00000348383.5_Missense_Mutation_p.G1263V|FLNB_ENST00000295956.4_Missense_Mutation_p.G1263V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1094V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1263V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1263V			O75369	FLNB_HUMAN	filamin B, beta	1263	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G1263V(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGGTTGGGGGTGACCACATC	0.572000													16	151					9.16793e-09	1.16557e-08	1	1	0
SEMA4A	64218	broad.mit.edu	37	1	156126349	156126349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:156126349C>G	ENST00000368285.3	+	3	551	c.284C>G	c.(283-285)cCc>cGc	p.P95R	SEMA4A_ENST00000355014.2_Missense_Mutation_p.P95R|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P95R|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	95	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.P95R(2)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGGGTCCCCAGGCTAAAG	0.567000													12	70					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86512537	86512537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:86512537G>T	ENST00000370571.2	-	12	2287	c.1921C>A	c.(1921-1923)Cgt>Agt	p.R641S	COL24A1_ENST00000436319.1_Missense_Mutation_p.R641S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	641			R -> H (in dbSNP:rs60891279).		cell adhesion	collagen	extracellular matrix structural constituent	p.R641S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ttctttccacggatcccagga	0.313000													16	78					7.45023e-12	1.03566e-11	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86089492	86089492	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:86089492G>T	ENST00000330753.4	+	2	2401	c.1634G>T	c.(1633-1635)gGc>gTc	p.G545V	FLRT2_ENST00000554746.1_Missense_Mutation_p.G545V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	545					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G545V(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGCTGGCGGGCTTGATCGGG	0.587000													24	86					3.80469e-20	6.33281e-20	1	1	0
ANGPTL1	9068	broad.mit.edu	37	1	178834573	178834573	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:178834573C>G	ENST00000234816.2	-	3	786	c.339G>C	c.(337-339)gtG>gtC	p.V113V	ANGPTL1_ENST00000367629.1_Silent_p.V113V|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	113						extracellular space	receptor binding	p.V113V(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTACCTCATTCACAATGTTTC	0.438000													14	447					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165969467	165969467	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:165969467G>T	ENST00000360093.3	-	21	4262	c.3771C>A	c.(3769-3771)ctC>ctA	p.L1257L	SCN3A_ENST00000283254.7_Silent_p.L1257L|SCN3A_ENST00000409101.3_Silent_p.L1208L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1257						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1257L(2)|p.L1208L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAACCCATTTGAGAAGCATTT	0.323000													80	636					9.17388e-59	1.90245e-58	1	1	0
ALMS1P	200420	broad.mit.edu	37	2	73898278	73898278	+	RNA	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:73898278G>T	ENST00000450720.1	+	0	307					NR_003683.2																						ACACAAGCAGGTAATTACTTG	0.353000													49	292					2.34445e-45	4.63395e-45	1	1	0
FOXP3	50943	broad.mit.edu	37	X	49108150	49108150	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:49108150A>T	ENST00000376207.4	-	11	1308	c.1121T>A	c.(1120-1122)tTc>tAc	p.F374Y	FOXP3_ENST00000376197.1_Missense_Mutation_p.F324Y|FOXP3_ENST00000557224.1_Missense_Mutation_p.F339Y|FOXP3_ENST00000376199.2_Missense_Mutation_p.F339Y|FOXP3_ENST00000455775.2_Missense_Mutation_p.F347Y|FOXP3_ENST00000518685.1_Missense_Mutation_p.F339Y	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	374					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding	p.F374Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATGGTTTCTGAAGAAGGCAAA	0.587000													9	31					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107808728	107808728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:107808728C>A	ENST00000379028.3	-	29	3777	c.3307G>T	c.(3307-3309)Gca>Tca	p.A1103S	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1103S|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.A1103S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1103	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.A1103S(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACTGCCTGCTACACCATAT	0.363000													6	48					3.09899e-07	3.62983e-07	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232574993	232574993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:232574993C>A	ENST00000366630.1	-	14	4250	c.3892G>T	c.(3892-3894)Gct>Tct	p.A1298S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1298S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A372S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1298					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A1298S(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGCATCAGCCCACTGCTCG	0.662000													19	65					2.39556e-15	3.60761e-15	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135692319	135692319	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:135692319C>A	ENST00000513104.1	-	2	1039	c.757G>T	c.(757-759)Gcc>Tcc	p.A253S	TRPC7_ENST00000355180.3_Missense_Mutation_p.A253S|TRPC7_ENST00000426057.2_Missense_Mutation_p.A253S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	253					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.A253S(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAATGTTGGCTAGTCTGGCT	0.557000													4	50					0.217242	0.217242	1	1	0
TNR	7143	broad.mit.edu	37	1	175325510	175325510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:175325510C>A	ENST00000367674.1	-	16	3771	c.3063G>T	c.(3061-3063)atG>atT	p.M1021I	TNR_ENST00000263525.2_Missense_Mutation_p.M1021I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1021	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.M1021I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGGCATACATGGTGGCAG	0.507000													114	425					6.72517e-49	1.35037e-48	1	1	0
CEACAM7	1087	broad.mit.edu	37	19	42191009	42191009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:42191009C>A	ENST00000006724.3	-	2	409	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70W|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70W|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70W	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACCCTTTCCCCTTTGTACCAG	0.438000													34	207					2.47316e-13	3.57548e-13	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161221085	161221085	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:161221085G>T	ENST00000327928.4	+	4	789	c.789G>T	c.(787-789)ggG>ggT	p.G263G		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	263	Collagen-like 2.					collagen		p.G263G(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTATGAAAGGGGAAAAAGGTA	0.547000													4	13					0.150653	0.151251	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87031499	87031499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:87031499C>G	ENST00000265723.4	-	28	3885	c.3774G>C	c.(3772-3774)aaG>aaC	p.K1258N	ABCB4_ENST00000358400.3_Missense_Mutation_p.K1204N|ABCB4_ENST00000453593.1_Missense_Mutation_p.K1204N|ABCB4_ENST00000545634.1_Missense_Mutation_p.K1251N|ABCB4_ENST00000359206.3_Missense_Mutation_p.K1251N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1258	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.K1251N(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCCATGCTCCTTGACTCTCC	0.498000													33	301					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265919	75265919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:75265919G>T	ENST00000325680.7	+	5	4043	c.3919G>T	c.(3919-3921)Gag>Tag	p.E1307*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.E1112*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.E1112*(1)|p.E1307*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTGGATAATGAGTGGGACAG	0.453000													7	172					0.0477658	0.0487288	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26769422	26769422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:26769422C>T	ENST00000404234.3	+	14	2996	c.2800C>T	c.(2800-2802)Caa>Taa	p.Q934*	SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.Q934*|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.Q707*	NM_001184773.1|NM_021115.4	NP_001171702.1|NP_066938.2	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	934						endoplasmic reticulum membrane|integral to membrane		p.Q934*(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTTAATCAAGACAGTTT	0.353000													6	74					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150656993	150656993	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:150656993G>T	ENST00000335230.3	-	10	1785	c.1374C>A	c.(1372-1374)atC>atA	p.I458I	SLC36A3_ENST00000377713.3_Silent_p.I499I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	458						integral to membrane		p.I458I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAATGGCTGATGGGTTGGG	0.478000													54	494					9.4991e-31	1.7802e-30	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75265706	75265706	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:75265706G>C	ENST00000325680.7	+	5	3830	c.3706G>C	c.(3706-3708)Gat>Cat	p.D1236H	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1041H|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1041					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.D1236H(1)|p.D1041H(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGACTATCAAGATGATACACT	0.468000													6	129					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75989204	75989204	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:75989204G>T	ENST00000274364.6	+	31	4227	c.3930G>T	c.(3928-3930)gtG>gtT	p.V1310V	IQGAP2_ENST00000502745.1_Silent_p.V806V|IQGAP2_ENST00000379730.3_Silent_p.V812V|IQGAP2_ENST00000396234.3_Silent_p.V806V|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1310					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.V1310V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATTGATGTGATCCGGAACC	0.398000													4	54					0.014758	0.0152399	1	1	0
LAMP5	24141	broad.mit.edu	37	20	9496207	9496207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:9496207C>A	ENST00000246070.2	+	2	664	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	LAMP5_ENST00000427562.2_Missense_Mutation_p.L58I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	58						integral to membrane		p.L58I(2)									GACGACGTGTCTCATGGCAGA	0.463000													12	110					6.72482e-11	9.0499e-11	1	1	0
NPNT	255743	broad.mit.edu	37	4	106863785	106863785	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:106863785G>C	ENST00000379987.2	+	8	1301	c.1085G>C	c.(1084-1086)aGt>aCt	p.S362T	NPNT_ENST00000427316.2_Missense_Mutation_p.S392T|NPNT_ENST00000453617.2_Missense_Mutation_p.S379T|NPNT_ENST00000514622.1_Missense_Mutation_p.S362T|NPNT_ENST00000305572.8_Missense_Mutation_p.S362T|NPNT_ENST00000506666.1_Missense_Mutation_p.S392T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	362	Pro-rich.				cell differentiation	membrane	calcium ion binding	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCAGCTGCCAGTACACCTCCA	0.512000													39	259					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130881250	130881250	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:130881250A>T	ENST00000383366.4	+	11	1255		c.e11-1		NEK11_ENST00000508196.1_Splice_Site|NEK11_ENST00000510769.1_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000412440.2_Splice_Site|NEK11_ENST00000356918.4_Splice_Site|NEK11_ENST00000510688.1_Splice_Site	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGTTATTTATAGGCAAAAAAG	0.413000													43	218					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48818791	48818791	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:48818791G>T	ENST00000309835.3	+	2	1940		c.e2-1		STON1_ENST00000406226.1_Splice_Site|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Splice_Site|STON1_ENST00000404752.1_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000394754.1_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site					stonin 1									p.?(4)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCCCTCGAGGTCTAGATCA	0.368000													22	99					1.36565e-18	2.18676e-18	1	1	0
KIF13B	23303	broad.mit.edu	37	8	29035078	29035078	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:29035078C>A	ENST00000524189.1	-	9	776	c.738G>T	c.(736-738)gtG>gtT	p.V246V	KIF13B_ENST00000521515.1_Silent_p.V246V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	246	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.V246V(4)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGAGTTTGCCCACTTTCTCTC	0.502000													48	324					5.0824e-10	6.73218e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9046706	9046706	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:9046706G>T	ENST00000397910.4	-	5	35128	c.34925C>A	c.(34924-34926)aCt>aAt	p.T11642N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11644	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7275N(2)|p.T11642N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTACTAGTGTCTGTTGC	0.517000													111	720					7.99423e-63	1.67152e-62	1	1	0
RARS2	57038	broad.mit.edu	37	6	88228554	88228554	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:88228554T>A	ENST00000369536.5	-	15	1338	c.1293A>T	c.(1291-1293)gcA>gcT	p.A431A	RARS2_ENST00000497828.1_5'UTR	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	431					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.A431A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GAATAATGAGTGCTGCGAGCC	0.463000													20	110					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42287590	42287590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:42287590C>A	ENST00000342228.3	-	9	2070	c.1701G>T	c.(1699-1701)acG>acT	p.T567T	SLC20A2_ENST00000520179.1_Silent_p.T567T|SLC20A2_ENST00000520262.1_Silent_p.T567T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	567					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T567T(2)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCTGGACGGCGTGATGGGAG	0.607000													5	34					0.000602214	0.000648341	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167096659	167096659	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:167096659G>T	ENST00000361200.2	+	6	2457	c.2291G>T	c.(2290-2292)gGg>gTg	p.G764V	DUSP27_ENST00000443333.1_Missense_Mutation_p.G764V|DUSP27_ENST00000271385.5_Missense_Mutation_p.G764V|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	764					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G764V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTGCCTGGGGGATGACCAA	0.567000													15	147					9.16793e-09	1.16557e-08	1	1	0
TNXB	7148	broad.mit.edu	37	6	32052275	32052275	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:32052275C>A	ENST00000375244.3	-	8	3561	c.3360G>T	c.(3358-3360)ctG>ctT	p.L1120L	TNXB_ENST00000375247.2_Silent_p.L1120L			P22105	TENX_HUMAN	tenascin XB	1207	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L1207L(2)|p.L1120L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCAGGATCCAGGGAGGTGA	0.582000													8	53					0.00621372	0.00649616	1	1	0
UBR5	51366	broad.mit.edu	37	8	103266711	103266711	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:103266711G>A	ENST00000520539.1	-	59	8825	c.8219C>T	c.(8218-8220)cCa>cTa	p.P2740L	UBR5_ENST00000521922.1_Missense_Mutation_p.P2733L|UBR5_ENST00000518205.1_Missense_Mutation_p.P468L|UBR5_ENST00000220959.4_Missense_Mutation_p.P2739L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2740	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.P2740L(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACTGGCTGGCAGTGATGG	0.408000													20	109					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42191008	42191008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:42191008C>A	ENST00000006724.3	-	2	410	c.209G>T	c.(208-210)gGg>gTg	p.G70V	CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70V|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70V|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70V	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CACCCTTTCCCCTTTGTACCA	0.438000													33	200					2.68265e-12	3.79168e-12	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75650121	75650121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:75650121G>T	ENST00000361470.2	+	1	2076	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	600	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.E600*(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCCAAGGAGGCTGAGAT	0.502000													5	24					0.0215528	0.0221661	1	1	0
RYR3	6263	broad.mit.edu	37	15	33945030	33945030	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:33945030C>A	ENST00000389232.4	+	32	4324	c.4254C>A	c.(4252-4254)gcC>gcA	p.A1418A	RYR3_ENST00000415757.3_Silent_p.A1418A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1418	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1418A(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGATCTGGCCATGGGCATGT	0.577000													27	140					1.30988e-24	2.31748e-24	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139737684	139737684	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:139737684C>A	ENST00000303045.6	-	24	2586		c.e24-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity	p.?(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGAGGGCCCTGTAGAGAAA	0.572000										HNSCC(7;0.00092)			10	35					1.08611e-07	1.29616e-07	1	1	0
PRPF18	8559	broad.mit.edu	37	10	13655795	13655795	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:13655795C>T	ENST00000378572.3	+	7	794	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	212					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		p.R212C(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTATGTGAAACGCAGTGTGCA	0.453000													13	77					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134916303	134916303	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:134916303C>T	ENST00000607359.1	+	14	2518	c.2518C>T	c.(2518-2520)Ctg>Ttg	p.L840L	GPR123_ENST00000392606.2_Silent_p.L23L|GPR123_ENST00000392607.3_Silent_p.L120L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	120						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L120L(1)|p.L840L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCTCTGTGCCTGGACACAGA	0.627000													5	19					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739015	42739015	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:42739015G>T	ENST00000441594.1	-	7	1111	c.850C>A	c.(850-852)Cca>Aca	p.P284T	HHATL_ENST00000310417.5_Missense_Mutation_p.P284T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	284					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.P284T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCACTGTCTGGGAGGCGGTTG	0.617000													15	102					6.49762e-13	9.34033e-13	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81662148	81662148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:81662148G>T	ENST00000356860.3	-	12	1446	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q370K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	370	VWFA.					voltage-gated calcium channel complex	metal ion binding	p.Q370K(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATATCTCCTGGGCTCTCTCT	0.279000													20	121					6.12954e-19	9.94085e-19	1	1	0
KEL	3792	broad.mit.edu	37	7	142641424	142641424	+	Missense_Mutation	SNP	G	G	T	rs61729050		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:142641424G>T	ENST00000355265.2	-	13	1951	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	493					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q493K(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGTATTCTTGTCGGGCCAGC	0.522000													51	259					1.19403e-26	2.15779e-26	1	1	0
BCOR	54880	broad.mit.edu	37	X	39932097	39932097	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:39932097G>A	ENST00000342274.4	-	4	2864	c.2502C>T	c.(2500-2502)agC>agT	p.S834S	BCOR_ENST00000378455.4_Silent_p.S834S|BCOR_ENST00000397354.3_Silent_p.S834S|BCOR_ENST00000378444.4_Silent_p.S834S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	834					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.S834S(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGCTCAGCGCTCTGGCCAA	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	25					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841641	5841641	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:5841641C>A	ENST00000317037.2	+	1	98	c.76C>A	c.(76-78)Cac>Aac	p.H26N	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H26N(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCCACACACATCTGGAT	0.547000													26	231					1.30897e-18	2.10936e-18	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34677938	34677938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:34677938C>A	ENST00000488417.1	+	6	1772	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	C1orf94_ENST00000373374.3_Missense_Mutation_p.S361Y	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	361							protein binding	p.S551Y(2)|p.S361Y(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAAGATGTCTGCCAACCCC	0.567000													16	113					2.4624e-09	3.21127e-09	1	1	0
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:147796051C>T	ENST00000513335.1	-	8	893	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000325106.4_Missense_Mutation_p.E206K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448000													7	75					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237819276	237819276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:237819276T>A	ENST00000366574.2	+	53	8438	c.8121T>A	c.(8119-8121)gaT>gaA	p.D2707E	RYR2_ENST00000360064.6_Missense_Mutation_p.D2705E|RYR2_ENST00000542537.1_Missense_Mutation_p.D2691E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2707	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D2705E(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCTGTTGATACCTCAAAGT	0.358000													17	56					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137504237	137504237	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:137504237C>T	ENST00000230901.5	-	9	798	c.783G>A	c.(781-783)caG>caA	p.Q261Q	BRD8_ENST00000254900.5_Intron|BRD8_ENST00000411594.2_Silent_p.Q261Q|BRD8_ENST00000402931.1_Intron|BRD8_ENST00000455658.2_Intron	NM_006696.3	NP_006687.3	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	214					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.Q261Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAGTTGCTTTCTGTCCAAGCA	0.557000													5	91					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228584677	228584677	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:228584677C>A	ENST00000493030.2	-	4	4164	c.455G>T	c.(454-456)gGa>gTa	p.G152V	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000366699.3_Missense_Mutation_p.G277V|TRIM11_ENST00000284551.6_Missense_Mutation_p.G277V			Q96F44	TRI11_HUMAN	tripartite motif containing 11	277					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	p.G277V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CTCTACCAGTCCCGGGACCCT	0.637000													15	70					5.03518e-11	6.84893e-11	1	1	0
SOX6	55553	broad.mit.edu	37	11	15994629	15994629	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:15994629C>A	ENST00000352083.6	-	16	2290	c.2213G>T	c.(2212-2214)gGa>gTa	p.G738V	SOX6_ENST00000528252.1_Missense_Mutation_p.G711V|SOX6_ENST00000527619.1_Missense_Mutation_p.G714V|SOX6_ENST00000396356.3_Missense_Mutation_p.G718V|SOX6_ENST00000316399.6_Missense_Mutation_p.G718V|SOX6_ENST00000528429.1_Missense_Mutation_p.G738V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	738					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G718V(2)|p.G714V(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACACCTGTTCCTGTGGTGAT	0.468000													29	255					1.90571e-15	2.88709e-15	1	1	0
GRB10	2887	broad.mit.edu	37	7	50742267	50742267	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:50742267C>A	ENST00000403097.1	-	5	990	c.210G>T	c.(208-210)acG>acT	p.T70T	GRB10_ENST00000401949.1_Silent_p.T76T|GRB10_ENST00000335866.3_Silent_p.T18T|GRB10_ENST00000398812.2_Silent_p.T76T|GRB10_ENST00000398810.2_Silent_p.T18T|GRB10_ENST00000402497.1_Silent_p.T18T|GRB10_ENST00000406641.1_Silent_p.T18T|GRB10_ENST00000357271.5_Silent_p.T76T|GRB10_ENST00000407526.1_Silent_p.T18T|GRB10_ENST00000439599.1_Silent_p.T70T|GRB10_ENST00000402578.1_Silent_p.T18T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	76					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.T76T(2)|p.T70T(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGAGGGGCACCGTGTCTGACT	0.622000									Russell-Silver syndrome				6	74					1.26484e-09	1.65806e-09	1	1	0
TBX5	6910	broad.mit.edu	37	12	114804095	114804095	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:114804095T>A	ENST00000310346.4	-	8	1523	c.857A>T	c.(856-858)aAt>aTt	p.N286I	TBX5_ENST00000526441.1_Missense_Mutation_p.N286I|TBX5_ENST00000349716.5_Missense_Mutation_p.N236I|TBX5_ENST00000405440.2_Missense_Mutation_p.N286I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	286					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N286I(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGACCCCAAATTGGATGAGGT	0.577000													28	219					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592014	81592014	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:81592014C>A	ENST00000394660.2	+	14	2707	c.2347C>A	c.(2347-2349)Cct>Act	p.P783T	IL16_ENST00000394652.2_Missense_Mutation_p.P82T|IL16_ENST00000302987.4_Missense_Mutation_p.P783T|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAGAAAGGTCCTCCTGTGGC	0.567000													9	77					0.00010058	0.000111608	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611369	84611369	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:84611369G>T	ENST00000286744.5	+	18	2363	c.2139G>T	c.(2137-2139)ggG>ggT	p.G713G	ADAMTSL3_ENST00000567476.1_Silent_p.G713G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	713	TSP type-1 5.		G -> R (in dbSNP:rs34047645).			proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G713G(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTTGGGGGCCCTGCTCAG	0.537000													37	312					2.46787e-29	4.52443e-29	1	1	0
ZNF777	27153	broad.mit.edu	37	7	149153030	149153030	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:149153030G>A	ENST00000247930.4	-	2	407	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P28P(2)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTTTCTCGGGGGAGTCCAG	0.547000													4	30					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862361	8862361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:8862361G>T	ENST00000338037.6	+	32	3543	c.3516G>T	c.(3514-3516)aaG>aaT	p.K1172N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1172					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.K1172N(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAAAGGAAAGATCAGTGAAG	0.517000													87	434					8.45761e-33	1.60885e-32	1	1	0
KIAA1024	23251	broad.mit.edu	37	15	79750731	79750731	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:79750731G>A	ENST00000305428.3	+	2	2317	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	748						integral to membrane		p.E748K(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATGAGGAGGAGATAAAAGA	0.468000													17	107					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352502	20352502	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:20352502C>G	ENST00000396134.2	-	8	1710	c.1587G>C	c.(1585-1587)ctG>ctC	p.L529L	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000570689.1_Silent_p.L496L|UMOD_ENST00000396138.4_Silent_p.L545L|UMOD_ENST00000424589.1_Silent_p.L529L|UMOD_ENST00000396142.2_Silent_p.L496L|UMOD_ENST00000302509.4_Silent_p.L496L	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	496	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.L496L(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAAATCGGGACAGGTCGCCCC	0.567000													11	91					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79265681	79265681	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:79265681C>T	ENST00000419573.3	-	26	3898	c.3624G>A	c.(3622-3624)acG>acA	p.T1208T	RASGRF1_ENST00000558480.2_Silent_p.T1192T|RASGRF1_ENST00000394745.3_Silent_p.T424T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1210	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.T1208T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCGTCTTCCGTGTAATTGG	0.602000													6	137					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287633	62287633	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:62287633G>A	ENST00000378024.4	-	5	14530	c.14256C>T	c.(14254-14256)ggC>ggT	p.G4752G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4752					nervous system development	nucleus	protein binding	p.G4752G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTCTGGGCCCTTGAGGT	0.507000													46	369					0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141900397	141900397	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:141900397T>C	ENST00000392993.2	-	11	1105	c.954A>G	c.(952-954)ccA>ccG	p.P318P		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	318					glycerol metabolic process		ATP binding|glycerol kinase activity	p.P318P(2)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACCCAATTAATGGATAAAAGC	0.363000													16	117					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369995	86369995	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:86369995C>T	ENST00000400286.2	-	2	1247	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	217						integral to membrane		p.D217N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CATTTGTTGTCCTCCAACTGA	0.413000													47	154					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152949423	152949423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:152949423G>T	ENST00000367255.5	-	3	645	c.44C>A	c.(43-45)gCc>gAc	p.A15D	SYNE1_ENST00000466159.2_Missense_Mutation_p.A15D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A15D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A15D|SYNE1_ENST00000413186.2_Missense_Mutation_p.A15D|SYNE1_ENST00000367248.3_Missense_Mutation_p.A15D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A15D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A15D|SYNE1_ENST00000367253.4_Missense_Mutation_p.A15D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	15	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A15D(6)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCACATTGGCGATATCCCG	0.498000										HNSCC(10;0.0054)			21	155					5.61819e-17	8.77408e-17	1	1	0
BEND4	389206	broad.mit.edu	37	4	42127651	42127651	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:42127651C>T	ENST00000502486.1	-	4	1674	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	BEND4_ENST00000504360.1_Silent_p.L361L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	365								p.L361L(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTGGTGCTGCAGAACCATCT	0.443000													22	226					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787146	100787146	+	Splice_Site	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:100787146G>A	ENST00000323346.5	+	4	786		c.e4-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.?(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGTCCCCCAGGGTCTTTGGA	0.473000													16	132					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921890	78921890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:78921890C>A	ENST00000261751.3	-	5	868	c.757G>T	c.(757-759)Gtc>Ttc	p.V253F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	253					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V253F(2)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGTAGAAGACGAGGATGGCC	0.552000													62	343					2.165e-29	3.99814e-29	1	1	0
OR10W1	81341	broad.mit.edu	37	11	58035114	58035114	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:58035114G>T	ENST00000395079.2	-	1	618	c.217C>A	c.(217-219)Ctg>Atg	p.L73M		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L73M(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GTGTTGGCCAGGATATGGGGC	0.507000													49	244					1.39843e-22	2.4233e-22	1	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62926160	62926160	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:62926160T>A	ENST00000253401.6	-	3	1159	c.359A>T	c.(358-360)aAg>aTg	p.K120M	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K118M|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K18M|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K67M|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K99M	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	120	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.K118M(2)|p.K120M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTTGAGGTGCTTGATGTAGTG	0.537000													17	101					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551067	248551067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248551067C>A	ENST00000355728.2	+	1	158	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P53H(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACATAGACCCTCATCTCCAC	0.458000													31	81					2.81731e-10	3.75148e-10	1	1	0
S1PR3	1903	broad.mit.edu	37	9	91617197	91617197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:91617197C>A	ENST00000375846.3	+	1	5777	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	S1PR3_ENST00000358157.2_Nonsense_Mutation_p.S361*			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	361					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.S361*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACAGCCCCCTCATCCTGCATC	0.537000													22	62					7.41945e-09	9.52853e-09	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885288	24885288	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:24885288G>T	ENST00000382554.3	+	9	4651	c.4333G>T	c.(4333-4335)Gcc>Tcc	p.A1445S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1445					DNA integration	integral to membrane	DNA binding	p.A1445S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGACACCCTGGCCAAGCAGGG	0.582000													4	33					1.23904e-05	1.41845e-05	1	1	0
CD1D	912	broad.mit.edu	37	1	158152847	158152847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:158152847C>A	ENST00000368171.3	+	5	1286	c.787C>A	c.(787-789)Ctc>Atc	p.L263I		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	263	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.L263I(2)|p.L263F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACATGGTATCTCCGAGCAAC	0.617000													64	310					5.05157e-50	1.02244e-49	1	1	0
HLA-DPB1	3115	broad.mit.edu	37	6	33053644	33053644	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:33053644C>T	ENST00000418931.2	+	4	851	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	245					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		p.F245F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGGGCATCTTCATGCACAGGA	0.552000													7	162					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136265	40136265	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:40136265G>T	ENST00000278198.2	-	2	3541	c.1578C>A	c.(1576-1578)acC>acA	p.T526T	LRRC4C_ENST00000527150.1_Silent_p.T526T|LRRC4C_ENST00000530763.1_Silent_p.T526T|LRRC4C_ENST00000528697.1_Silent_p.T526T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	526					regulation of axonogenesis	integral to membrane	protein binding	p.T526T(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGATGATTTTGGTAGTCTTCA	0.468000													33	184					3.62531e-18	5.69691e-18	1	1	0
SACS	26278	broad.mit.edu	37	13	23915491	23915491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:23915491C>A	ENST00000382298.3	-	10	3112	c.2524G>T	c.(2524-2526)Gac>Tac	p.D842Y	SACS_ENST00000402364.1_Missense_Mutation_p.D92Y|SACS_ENST00000382292.3_Missense_Mutation_p.D842Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.D695Y(2)|p.D842Y(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTACAATGTCTGCTAAAAAT	0.363000													10	56					1.08611e-07	1.29616e-07	1	1	0
NIT1	4817	broad.mit.edu	37	1	161088936	161088936	+	Missense_Mutation	SNP	G	G	T	rs144963228	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:161088936G>T	ENST00000368008.1	+	3	170	c.111G>T	c.(109-111)atG>atT	p.M37I	NIT1_ENST00000368007.4_Missense_Mutation_p.M22I|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368009.2_Missense_Mutation_p.M37I|NIT1_ENST00000392190.5_Start_Codon_SNP_p.M1I	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	37					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGAGCCATGGCTATCTCCT	0.517000													12	98					3.27435e-08	4.00905e-08	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167164213	167164213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:167164213G>T	ENST00000476257.1	-	9	1406	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T	SERPINI2_ENST00000471111.1_Missense_Mutation_p.P370T|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P370T|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P370T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	370					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P370T(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AACAGAAATGGATGATTTGCT	0.333000													8	118					4.68919e-08	5.70368e-08	1	1	0
NALCN	259232	broad.mit.edu	37	13	101755531	101755531	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:101755531T>A	ENST00000251127.6	-	26	3130	c.3049A>T	c.(3049-3051)Att>Ttt	p.I1017F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1017						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I1017F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAAAAAAATTTCCTTGAAG	0.438000													19	166					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67662413	67662413	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:67662413G>T	ENST00000264010.4	+	9	2103	c.1659G>T	c.(1657-1659)gcG>gcT	p.A553A	CTCF_ENST00000401394.1_Silent_p.A225A	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	553					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.A553A(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCGTCCCTGCGGCTTTTGTCT	0.483000													43	337					6.31075e-24	1.10876e-23	1	1	0
PLGLA	285189	broad.mit.edu	37	2	107004078	107004078	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:107004078C>A	ENST00000484422.1	+	0	167																											AGAAGTCCTCCATAATCATTA	0.398000													105	838					6.34794e-51	1.29518e-50	1	1	0
IRF2	3660	broad.mit.edu	37	4	185310048	185310048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:185310048C>A	ENST00000393593.3	-	9	1121	c.914G>T	c.(913-915)tGg>tTg	p.W305L		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	305					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.W305L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AAAAGGGGGCCAGGAGCTGTT	0.592000													31	150					1.61788e-16	2.48075e-16	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342383	58342383	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:58342383C>A	ENST00000371015.1	+	5	1151	c.684C>A	c.(682-684)ctC>ctA	p.L228L	PHACTR3_ENST00000541461.1_Silent_p.L187L|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Silent_p.L225L|PHACTR3_ENST00000395636.2_Silent_p.L187L|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Silent_p.L187L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	228	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGGCCAGCTCCCCAGCCCCC	0.607000													22	128					2.4375e-19	3.97863e-19	1	1	0
IL16	3603	broad.mit.edu	37	15	81592015	81592015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:81592015C>A	ENST00000394660.2	+	14	2708	c.2348C>A	c.(2347-2349)cCt>cAt	p.P783H	IL16_ENST00000394652.2_Missense_Mutation_p.P82H|IL16_ENST00000302987.4_Missense_Mutation_p.P783H|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGAAAGGTCCTCCTGTGGCT	0.567000													9	77					6.40141e-05	7.16618e-05	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:99640640C>A	ENST00000547776.2	-	13	1758	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587Y|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167Y|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473000													49	443					2.13883e-14	3.16447e-14	1	1	0
C11orf68	83638	broad.mit.edu	37	11	65685409	65685409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:65685409C>A	ENST00000438576.2	-	2	488	c.403G>T	c.(403-405)Gtg>Ttg	p.V135L	C11orf68_ENST00000449692.3_Missense_Mutation_p.V134L|C11orf68_ENST00000530188.1_Missense_Mutation_p.V93L			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	93								p.V135L(2)|p.V93L(2)		large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		AGGCCCTGCACGTCCCCGGAG	0.657000													4	17					0.014758	0.0152399	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342384	58342384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:58342384C>A	ENST00000371015.1	+	5	1152	c.685C>A	c.(685-687)Ccc>Acc	p.P229T	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P188T|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P226T|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P188T|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P188T	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	229	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGGCCAGCTCCCCAGCCCCCC	0.607000													22	126					2.4375e-19	3.97863e-19	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44028081	44028081	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:44028081C>T	ENST00000262726.7	-	19	2389	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	EFCAB6_ENST00000396231.2_Silent_p.Q560Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.Q712Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGTTGGAGGCTGCGGCGGAG	0.483000													23	115					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888839	141888839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:141888839C>A	ENST00000420921.2	-	3	338	c.250G>T	c.(250-252)Gca>Tca	p.A84S	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000515673.1_Missense_Mutation_p.A225S|RNF150_ENST00000507500.1_Missense_Mutation_p.A225S|RNF150_ENST00000379512.2_Missense_Mutation_p.A84S			Q9ULK6	RN150_HUMAN	ring finger protein 150	225	PA.					integral to membrane	zinc ion binding	p.A225S(2)|p.A134S(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACGAGCCATGCGAGGGAAATG	0.423000													50	308					5.22555e-25	9.31032e-25	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089295	9089295	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:9089295G>T	ENST00000397910.4	-	1	2723	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	840	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L840L(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACACTTGGGAGGCTGAGAG	0.468000													107	553					1.07149e-41	2.08529e-41	1	1	0
FAT4	79633	broad.mit.edu	37	4	126240206	126240206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:126240206C>A	ENST00000394329.3	+	1	2653	c.2640C>A	c.(2638-2640)aaC>aaA	p.N880K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	880	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N880K(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTATGGTTAACATAACAGTTA	0.448000													14	68					6.31663e-08	7.61003e-08	1	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36250716	36250716	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:36250716G>T	ENST00000315571.5	+	6	828	c.807G>T	c.(805-807)gcG>gcT	p.A269A	LDLRAD3_ENST00000524419.1_Silent_p.A259A|LDLRAD3_ENST00000528989.1_Silent_p.A220A	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	269						integral to membrane	receptor activity	p.A269A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACAGGCCTGCGTGGTATGACC	0.592000													20	217					5.35356e-11	7.24305e-11	1	1	0
CTCF	10664	broad.mit.edu	37	16	67663408	67663408	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:67663408C>T	ENST00000264010.4	+	10	2253	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	CTCF_ENST00000401394.1_Silent_p.R275R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	603					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R603R(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAAGATGCGCTCTAAGAAAG	0.448000													19	146					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84606415	84606415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:84606415C>T	ENST00000262753.4	-	5	626	c.481G>A	c.(481-483)Gga>Aga	p.G161R	POF1B_ENST00000373145.3_Missense_Mutation_p.G161R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	161							actin binding	p.G161R(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACATTGTTTCCTGGGAAGAAA	0.284000													12	98					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146525	111146525	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:111146525G>A	ENST00000485317.1	-	3	1553	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	KCNA2_ENST00000440270.1_Missense_Mutation_p.R294C|KCNA2_ENST00000316361.4_Missense_Mutation_p.R294C|KCNA2_ENST00000369770.3_Missense_Mutation_p.R294C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	294						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R294C(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CGGATGACACGGAGGATGGCC	0.537000													19	112					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49357467	49357467	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:49357467G>T	ENST00000225298.7	+	8	1170		c.e8+1			NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)						rRNA processing	nucleolus		p.?(2)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AGCAATGAAGGTAAAGCATTA	0.413000													5	38					0.00307968	0.00324649	1	1	0
IKBKB	3551	broad.mit.edu	37	8	42178306	42178306	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:42178306T>C	ENST00000520810.1	+	16	1818	c.1632T>C	c.(1630-1632)atT>atC	p.I544I	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.I542I|IKBKB_ENST00000379708.3_Silent_p.I321I|IKBKB_ENST00000416505.2_Silent_p.I485I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	544					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.I544I(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGACCGACATTGTGGACTTAC	0.572000													11	236					0	0	1	0	0
GLIPR2	152007	broad.mit.edu	37	9	36162380	36162380	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:36162380G>T	ENST00000377960.4	+	5	360	c.326G>T	c.(325-327)tGg>tTg	p.W109L	GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.W83L	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	109				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane		p.W109L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GCCATGGTATGGAAGAACACC	0.567000													63	309					1.49723e-40	2.8916e-40	1	1	0
LPPR5	163404	broad.mit.edu	37	1	99418685	99418685	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:99418685G>T	ENST00000370188.3	-	3	922	c.562C>A	c.(562-564)Cga>Aga	p.R188R	LPPR5_ENST00000263177.4_Silent_p.R188R	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		188						integral to membrane	hydrolase activity	p.R188R(2)									AAGGTTTTTCGGGCTCTCATG	0.423000													32	178					3.6622e-26	6.57118e-26	1	1	0
RBMS2	5939	broad.mit.edu	37	12	56963712	56963712	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:56963712T>C	ENST00000262031.5	+	4	417	c.322T>C	c.(322-324)Tca>Cca	p.S108P	RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.S108P|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	108	RRM 1.				RNA processing	nucleus	nucleotide binding|RNA binding	p.S108P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGACAGCCCTTCAGCAGCACA	0.512000													36	191					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072726	35072726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:35072726G>T	ENST00000382002.5	-	6	920	c.494C>A	c.(493-495)aCg>aAg	p.T165K	PRLR_ENST00000348262.3_Missense_Mutation_p.T165K|PRLR_ENST00000310101.5_Missense_Mutation_p.T165K|PRLR_ENST00000231423.3_Missense_Mutation_p.T165K|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Missense_Mutation_p.T64K|PRLR_ENST00000542609.1_Missense_Mutation_p.T165K|PRLR_ENST00000513753.1_Missense_Mutation_p.T165K|PRLR_ENST00000511486.1_Missense_Mutation_p.T64K|PRLR_ENST00000397391.3_Missense_Mutation_p.T94K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	165	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T165K(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATACAGGAGCGTGAACCAACC	0.448000													32	188					1.836e-18	2.92144e-18	1	1	0
DPP6	1804	broad.mit.edu	37	7	154379590	154379590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:154379590G>T	ENST00000406326.1	+	6	1261	c.858G>T	c.(856-858)tgG>tgT	p.W286C	DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.W286C(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATATTCCATGGAGACCCTGGC	0.577000													24	235					1.2476e-16	1.92465e-16	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11656186	11656186	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:11656186T>A	ENST00000262442.3	+	33	6715	c.6647T>A	c.(6646-6648)aTc>aAc	p.I2216N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2216N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2216	AAA 2 (By similarity).			I -> T (in Ref. 4; BAA21573).	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2216N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTGCCAACATCACCCATGAT	0.413000													21	157					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531692	140531692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:140531692C>A	ENST00000231136.1	+	1	1854	c.1854C>A	c.(1852-1854)caC>caA	p.H618Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H482Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H618Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGGCGCACAATGGCGAGG	0.682000													9	102					0.000566183	0.000612155	1	1	0
LPA	4018	broad.mit.edu	37	6	161022092	161022092	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:161022092A>G	ENST00000447678.1	-	20	3104	c.2984T>C	c.(2983-2985)gTg>gCg	p.V995A	LPA_ENST00000316300.5_Missense_Mutation_p.V995A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3503	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.V995A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGGGGCTGCCACAGGATCTGG	0.473000													19	220					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54964098	54964098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:54964098C>A	ENST00000375006.3	-	11	1228	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E186D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E321D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	386	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.E386D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGTACATTCTCCTGTCGTT	0.483000													24	164					3.01185e-09	3.88774e-09	1	1	0
MGA	23269	broad.mit.edu	37	15	42042472	42042472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:42042472G>T	ENST00000219905.7	+	17	6848	c.6667G>T	c.(6667-6669)Gac>Tac	p.D2223Y	MGA_ENST00000545763.1_Missense_Mutation_p.D2014Y|MGA_ENST00000389936.4_Missense_Mutation_p.D2184Y|MGA_ENST00000570161.1_Missense_Mutation_p.D2223Y|MGA_ENST00000566586.1_Missense_Mutation_p.D2014Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2184						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.D2272Y(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGCATCTCTGACTTACTTGG	0.378000													19	163					7.45023e-12	1.03566e-11	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126137133	126137133	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:126137133C>A	ENST00000299308.3	+	8	2054	c.2046C>A	c.(2044-2046)atC>atA	p.I682I	TMEM132B_ENST00000535886.1_Silent_p.I194I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	682						integral to membrane		p.I682I(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGGGCCATCGTCTCCACAG	0.607000													25	185					1.71298e-08	2.15614e-08	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33488394	33488394	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:33488394T>A	ENST00000404816.2	+	15	2905	c.2552T>A	c.(2551-2553)gTt>gAt	p.V851D	LTBP1_ENST00000402934.1_Missense_Mutation_p.V472D|LTBP1_ENST00000407925.1_Missense_Mutation_p.V525D|LTBP1_ENST00000404525.1_Missense_Mutation_p.V472D|LTBP1_ENST00000354476.3_Missense_Mutation_p.V852D|LTBP1_ENST00000390003.4_Missense_Mutation_p.V526D|LTBP1_ENST00000418533.2_Missense_Mutation_p.V525D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	851					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.V852D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTGTGCCTGTTGAAGTAGCT	0.403000													20	146					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406314	55406314	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:55406314A>G	ENST00000314612.2	+	1	481	c.481A>G	c.(481-483)Acc>Gcc	p.T161A		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T161A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTTTCTTCTCACCATCTTTGT	0.393000													18	147					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86672763	86672763	+	Silent	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:86672763A>T	ENST00000456692.2	+	17	1834	c.1719A>T	c.(1717-1719)acA>acT	p.T573T	RASA1_ENST00000512763.1_Silent_p.T583T|RASA1_ENST00000274376.6_Silent_p.T750T|RASA1_ENST00000506290.1_Silent_p.T584T|CTC-428H11.2_ENST00000607486.1_RNA	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	750	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.T750T(2)|p.T573T(2)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGACCGAACACTACTGGCCA	0.368000													24	289					0	0	1	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519214	137519214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:137519214G>A	ENST00000367739.4	-	7	1545	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	IFNGR1_ENST00000543628.1_Missense_Mutation_p.S447F	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	475					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	p.S475F(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACCAATCAAGGACTCTTTACC	0.413000													13	163					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106235600	106235600	+	RNA	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:106235600T>A	ENST00000390551.2	-	0	1106																											AGGGAGAGGCTCTTCTGCGTG	0.632000													14	166					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875730	247875730	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:247875730T>A	ENST00000302084.2	-	1	375	c.328A>T	c.(328-330)Aca>Tca	p.T110S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110S(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGTACTCTGTGCAGCCTAAT	0.498000													46	130					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826463	13826463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr18:13826463C>A	ENST00000324750.3	+	1	921	c.699C>A	c.(697-699)agC>agA	p.S233R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	233				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.S233R(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGAGGACCAGCATGCAGGGCG	0.612000													6	56					0.00116845	0.00123689	1	1	0
FZD3	7976	broad.mit.edu	37	8	28385432	28385432	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:28385432T>A	ENST00000240093.3	+	5	1633	c.1155T>A	c.(1153-1155)gtT>gtA	p.V385V	FZD3_ENST00000537916.1_Silent_p.V385V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	385					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.V385V(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGTGGTAGTTGGGGTTTCTC	0.398000													27	184					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18881188	18881188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:18881188G>C	ENST00000446231.2	-	19	3033	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	SMG1_ENST00000389467.3_Missense_Mutation_p.S874C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	874	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S870C(2)|p.S874C(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTCTATGAGAGTTCCCATA	0.318000													4	45					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176423	57176423	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:57176423C>A	ENST00000537055.2	-	2	375	c.144G>T	c.(142-144)ggG>ggT	p.G48G		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.G70G(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCATGCTGTCCCCAGCAGGGT	0.592000													6	44					0.000442599	0.000482662	1	1	0
RALA	5898	broad.mit.edu	37	7	39730128	39730128	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:39730128G>T	ENST00000005257.2	+	3	642	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	88					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	p.G88W(2)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AAGTGGGGAGGGGTTCCTCTG	0.458000													24	128					2.4375e-19	3.97863e-19	1	1	0
LCN2	3934	broad.mit.edu	37	9	130911883	130911883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:130911883C>A	ENST00000540948.1	+	1	152	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	LCN2_ENST00000277480.2_Missense_Mutation_p.L27M|LCN2_ENST00000373013.2_Missense_Mutation_p.L27M|LCN2_ENST00000372998.1_Missense_Mutation_p.L27M|LCN2_ENST00000373017.1_Missense_Mutation_p.L27M|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.L27M(2)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CACCTCAGACCTGATCCCAGC	0.642000													4	24					0.00024832	0.00027197	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32187987	32187987	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:32187987G>A	ENST00000375023.3	-	7	1372	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	412	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L412F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCCTGTGAGGGGGTTGGTG	0.627000													14	149					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55439661	55439661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:55439661T>A	ENST00000341048.4	-	7	730	c.579A>T	c.(577-579)aaA>aaT	p.K193N	ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000513241.2_Missense_Mutation_p.K164N|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	192								p.K193N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTTTAAAGTCTTTATCCACAA	0.502000													74	356					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123920082	123920082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:123920082G>T	ENST00000373855.1	+	29	4821	c.4561G>T	c.(4561-4563)Gaa>Taa	p.E1521*	CNTRL_ENST00000373847.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.E1521*			Q7Z7A1	CNTRL_HUMAN	centriolin	1521					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.E1521*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AATCTTGAAAGAAATAAACAA	0.408000													20	90					6.33239e-15	9.42408e-15	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78772069	78772069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:78772069G>A	ENST00000545128.1	+	11	1959	c.1421G>A	c.(1420-1422)cGa>cAa	p.R474Q	PCSK5_ENST00000376767.3_Missense_Mutation_p.R474Q|PCSK5_ENST00000376752.4_Missense_Mutation_p.R474Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	474	Homo B/P.				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	p.R474Q(3)		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						AGCACAGACCGACAAATCAAG	0.517000													8	201					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616371	248616371	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248616371G>T	ENST00000342927.3	+	1	295	c.273G>T	c.(271-273)aaG>aaT	p.K91N		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K91N(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAAGGACAAGACCATTTCCT	0.522000													74	626					4.08981e-53	8.41238e-53	1	1	0
PAPLN	89932	broad.mit.edu	37	14	73725989	73725989	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:73725989A>G	ENST00000427855.1	+	16	1823	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	PAPLN_ENST00000555445.1_Missense_Mutation_p.Q574R|PAPLN_ENST00000554301.1_Missense_Mutation_p.Q574R|PAPLN_ENST00000340738.5_Missense_Mutation_p.Q547R|PAPLN_ENST00000381166.3_Missense_Mutation_p.Q574R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	574						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.Q547R(2)|p.Q574R(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCAGAGGCCAGTGGTGGGCA	0.647000													5	96					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823356	70823356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:70823356G>C	ENST00000353151.3	-	5	322	c.311C>G	c.(310-312)gCt>gGt	p.A104G		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	104					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	p.A104G(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGTGTCTTTAGCTTTAGGGAC	0.463000													30	297					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31249876	31249876	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:31249876G>T	ENST00000407793.2	+	17	1965	c.1714G>T	c.(1714-1716)Gct>Tct	p.A572S	DDX11_ENST00000542838.1_Missense_Mutation_p.A572S|DDX11_ENST00000350437.4_Missense_Mutation_p.A572S|DDX11_ENST00000545668.1_Missense_Mutation_p.A572S|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A546S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	572					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.A572S(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTCCTGGCAGCTCTCACTAC	0.602000										Multiple Myeloma(12;0.14)			3	30					0.00116845	0.00123689	1	1	0
ZIC3	7547	broad.mit.edu	37	X	136649500	136649500	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:136649500C>G	ENST00000287538.5	+	1	1200	c.650C>G	c.(649-651)cCt>cGt	p.P217R	ZIC3_ENST00000370606.3_Missense_Mutation_p.P217R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	217			P -> A (in a patient with atrial septal defect and pulmonic stenosis not associated with heterotaxy; lacks DNA- binding; does not inhibit transcriptional activation and interaction with GLI3).		cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P217R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTTCCTAACTACAGC	0.662000													7	25					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132563	91132563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:91132563G>T	ENST00000373094.1	+	2	2169	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	PCDH11X_ENST00000406881.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G442C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G442C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	442	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.G442C(6)|p.G442R(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGATGCTGGCAAACCTCC	0.408000													19	75					2.54651e-27	4.63501e-27	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158724748	158724748	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:158724748C>A	ENST00000368144.2	+	1	239	c.143C>A	c.(142-144)gCg>gAg	p.A48E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A48E(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTCCCGCATGCGCACAGAGGT	0.453000													55	416					1.93748e-29	3.60428e-29	1	1	0
TAF4	6874	broad.mit.edu	37	20	60575248	60575248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:60575248G>A	ENST00000252996.3	-	11	2718	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	907					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.Q907*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGCCTTTGTTGCGTGGCATGT	0.373000													24	130					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15159	15159	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrM:15159T>C	ENST00000361789.2	+	1	413	c.413T>C	c.(412-414)aTa>aCa	p.138_138insT						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GTGAGGCCAAATATCATTCTG	0.458000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	4	24					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285781	130285781	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:130285781C>A	ENST00000358511.6	+	4	1549	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	COL6A6_ENST00000453409.2_Silent_p.I506I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	506	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.I506I(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGAGAATATCAGGCAGATGG	0.473000													30	156					8.16721e-17	1.26767e-16	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1581080	1581080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:1581080G>T	ENST00000421627.2	+	5	1572	c.1438G>T	c.(1438-1440)Gac>Tac	p.D480Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	559					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.D502Y(2)|p.D524Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGATGCCCTCGACCTCCCGGG	0.537000													8	114					0.000157383	0.000173122	1	1	0
SCN3B	55800	broad.mit.edu	37	11	123508905	123508905	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:123508905G>T	ENST00000392770.2	-	4	1375	c.573C>A	c.(571-573)gcC>gcA	p.A191A	SCN3B_ENST00000299333.3_Silent_p.A191A|SCN3B_ENST00000530277.1_Silent_p.A191A	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	191					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.A191A(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CGTTTTCTTGGGCTGCCTCTT	0.448000													12	66					2.27111e-07	2.67252e-07	1	1	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													5	48					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843212	57843212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:57843212G>T	ENST00000309668.2	+	2	593	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C	INHBC_ENST00000550133.1_Missense_Mutation_p.G156C	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	156					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.G156C(2)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTTGTGCTGGGTCCACATAA	0.552000													74	495					4.65891e-64	9.82253e-64	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155306968	155306968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:155306968C>A	ENST00000392825.3	+	13	2143	c.1576C>A	c.(1576-1578)Cct>Act	p.P526T	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	526	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P526T(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTCGATGAACCTTCTGAAGA	0.438000													30	269					9.65963e-10	1.27286e-09	1	1	0
SLC26A9	115019	broad.mit.edu	37	1	205897047	205897047	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:205897047C>T	ENST00000367135.3	-	9	1197	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	SLC26A9_ENST00000367134.2_Missense_Mutation_p.D362N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.D362N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	362						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.D362N(4)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAATCCACGTCGTAGCCGTGC	0.587000													30	198					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79978240	79978240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:79978240C>A	ENST00000373275.4	-	17	1913	c.1697G>T	c.(1696-1698)cGt>cTt	p.R566L		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	566								p.R566L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTGGCATCACGAATAAGAGG	0.393000													16	142					4.96729e-08	6.01304e-08	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24834793	24834793	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:24834793A>T	ENST00000395799.3	+	25	5683	c.5554A>T	c.(5554-5556)Agt>Tgt	p.S1852C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.S330C|TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1803C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1852	RRM.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.S1852C(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGAGTTTGCCAGTGAAGAGGA	0.577000													34	252					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13427851	13427851	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:13427851C>A	ENST00000254508.5	-	6	823	c.741G>T	c.(739-741)ccG>ccT	p.P247P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	247					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P247P(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGTCATAGGCCGGGTTCAGAA	0.493000													10	70					0.000673444	0.000718909	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106821053	106821053	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:106821053A>T	ENST00000228347.4	+	13	1402	c.1180A>T	c.(1180-1182)Aag>Tag	p.K394*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.K336*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	394					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.K394*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGATTCCTAAGCAAAGAGC	0.363000													36	221					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204375279	204375279	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:204375279T>C	ENST00000367188.4	-	2	2462	c.2083A>G	c.(2083-2085)Atg>Gtg	p.M695V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	695					regulation of translation			p.M695V(2)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTATTAAACATTCTTTCTCTG	0.403000													135	425					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248020633	248020633	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248020633G>A	ENST00000366481.3	+	1	133	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	29						intracellular	zinc ion binding	p.V29M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCGGTCAGCGTGGACTGCGG	0.726000													3	8					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948533	145948533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:145948533C>A	ENST00000292562.7	-	5	787	c.512G>T	c.(511-513)gGc>gTc	p.G171V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G128V(2)|p.G171V(2)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTTTCCCTGCCCACGGTAGC	0.433000													24	167					1.32003e-05	1.50436e-05	1	1	0
PCBP2	5094	broad.mit.edu	37	12	53853102	53853102	+	Missense_Mutation	SNP	C	C	T	rs111807426		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:53853102C>T	ENST00000603815.1	+	6	640	c.290C>T	c.(289-291)cCg>cTg	p.P97L	PCBP2_ENST00000552819.1_Missense_Mutation_p.P97L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Missense_Mutation_p.P97L|PCBP2_ENST00000549863.1_Missense_Mutation_p.P97L|PCBP2_ENST00000548933.1_Missense_Mutation_p.P97L|PCBP2_ENST00000546463.1_Missense_Mutation_p.P97L|PCBP2_ENST00000455667.3_Missense_Mutation_p.P97L|PCBP2_ENST00000447282.1_Missense_Mutation_p.P97L|PCBP2_ENST00000439930.3_Missense_Mutation_p.P97L|PCBP2_ENST00000437231.1_Missense_Mutation_p.P97L|PCBP2_ENST00000359462.5_Missense_Mutation_p.P97L|PCBP2_ENST00000359282.5_Missense_Mutation_p.P97L|PCBP2_ENST00000541275.1_Missense_Mutation_p.P97L	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	97	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.P97L(2)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGTAGACCCCCGGTCACCCTG	0.488000													20	132					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449602	149449602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:149449602C>A	ENST00000286301.3	-	10	1635	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	448	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Q448H(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATCCCAGACCTGCAGCACTT	0.587000													29	136					3.28013e-08	4.00905e-08	1	1	0
CASR	846	broad.mit.edu	37	3	122002991	122002991	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:122002991C>A	ENST00000498619.1	+	7	2658	c.2220C>A	c.(2218-2220)ctC>ctA	p.L740L	CASR_ENST00000296154.5_Silent_p.L730L|CASR_ENST00000490131.1_Silent_p.L730L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	730					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L730L(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTTTTCCTCTGCACCTTCA	0.557000													12	103					0.0135373	0.0140944	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690667	77690667	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:77690667A>T	ENST00000521891.2	+	4	3765	c.3317A>T	c.(3316-3318)aAt>aTt	p.N1106I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N1080I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N1080I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N1080I|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1080						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1106I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCACCAAATGAGCTTGGT	0.532000										HNSCC(33;0.089)			41	215					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35608274	35608274	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:35608274C>G	ENST00000287272.2	+	12	1923	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	UNC5D_ENST00000420357.1_Missense_Mutation_p.L637V|UNC5D_ENST00000449677.1_Missense_Mutation_p.L280V|UNC5D_ENST00000404895.2_Missense_Mutation_p.L704V|UNC5D_ENST00000416672.1_Missense_Mutation_p.L709V|UNC5D_ENST00000453357.2_Missense_Mutation_p.L699V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	704	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.L699V(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGTAACTCCCTGGATTACAA	0.458000													37	310					0	0	1	0	0
SOD2	6648	broad.mit.edu	37	6	160103667	160103667	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:160103667A>C	ENST00000538183.1	-	5	687	c.527T>G	c.(526-528)cTt>cGt	p.L176R	SOD2_ENST00000337404.4_Missense_Mutation_p.L137R|SOD2_ENST00000444946.2_Missense_Mutation_p.L116R|SOD2_ENST00000367055.4_Missense_Mutation_p.L176R|SOD2_ENST00000546087.1_Missense_Mutation_p.L130R|SOD2_ENST00000367054.2_Missense_Mutation_p.L137R	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	176					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	p.L176R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CAGTGGAATAAGGCCTGTTAG	0.368000													5	57					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33714148	33714148	+	Missense_Mutation	SNP	C	C	A	rs148170838	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:33714148C>A	ENST00000540582.1	-	12	1473	c.752G>T	c.(751-753)cGc>cTc	p.R251L	EDEM2_ENST00000541621.1_Missense_Mutation_p.R71L|EDEM2_ENST00000542871.1_Missense_Mutation_p.R16L|EDEM2_ENST00000374492.3_Missense_Mutation_p.R292L|EDEM2_ENST00000374491.2_Missense_Mutation_p.R255L			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	292					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.R292L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCATCGAAGCGGGTGTAGTT	0.532000													7	87					7.48243e-07	8.68374e-07	1	1	0
LAIR2	3904	broad.mit.edu	37	19	55014926	55014926	+	Silent	SNP	G	G	T	rs151276812		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:55014926G>T	ENST00000301202.2	+	2	167	c.45G>T	c.(43-45)ctG>ctT	p.L15L	LAIR2_ENST00000351841.2_Silent_p.L15L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	15						extracellular region	receptor activity	p.L15L(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TGCTCTGCCTGGCCCAGACCA	0.607000													14	106					3.52763e-06	4.05678e-06	1	1	0
IRAK4	51135	broad.mit.edu	37	12	44180315	44180315	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:44180315T>C	ENST00000431837.1	+	10	1238	c.930T>C	c.(928-930)agT>agC	p.S310S	IRAK4_ENST00000551736.1_Silent_p.S434S|IRAK4_ENST00000448290.2_Silent_p.S434S|IRAK4_ENST00000440781.2_Silent_p.S310S	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	434	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S434S(2)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTGTTGCTAGTCAATGTCTGC	0.308000													20	141					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561009	9561009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:9561009C>A	ENST00000378429.3	-	5	1319	c.773G>T	c.(772-774)gGa>gTa	p.G258V	PAK7_ENST00000378423.1_Missense_Mutation_p.G258V|PAK7_ENST00000353224.5_Missense_Mutation_p.G258V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	258	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G258V(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGGCTGGGTCCCCATTCACT	0.562000													41	260					7.90463e-13	1.12987e-12	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94964180	94964180	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:94964180G>T	ENST00000341228.2	-	3	1350	c.555C>A	c.(553-555)acC>acA	p.T185T	SERPINA12_ENST00000556881.1_Silent_p.T185T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	185					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T185T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCCCATGGGTTTTTTGAC	0.398000													17	153					3.51602e-12	4.94196e-12	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35835224	35835224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:35835224C>A	ENST00000187397.4	+	20	2669	c.2213C>A	c.(2212-2214)cCc>cAc	p.P738H	ARPP21_ENST00000417925.1_Missense_Mutation_p.P739H|ARPP21_ENST00000458225.1_Missense_Mutation_p.P739H|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.P719H|ARPP21_ENST00000444190.1_Missense_Mutation_p.P719H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	738	Gln-rich.					cytoplasm	nucleic acid binding	p.P738H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAAGGACTGCCCCAGCAGTCA	0.488000													17	118					2.35188e-11	3.23384e-11	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133823374	133823374	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:133823374G>T	ENST00000395374.1	+	3	702	c.448G>T	c.(448-450)Gta>Tta	p.V150L	PHF20L1_ENST00000395383.1_Splice_Site|PHF20L1_ENST00000395376.1_Missense_Mutation_p.V316L|PHF20L1_ENST00000395382.3_Splice_Site|PHF20L1_ENST00000395386.2_Splice_Site|PHF20L1_ENST00000395390.2_Splice_Site|PHF20L1_ENST00000395379.1_Missense_Mutation_p.V311L|PHF20L1_ENST00000337920.4_Missense_Mutation_p.V285L|PHF20L1_ENST00000315808.10_Splice_Site|PHF20L1_ENST00000220847.7_Splice_Site			A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	0							nucleic acid binding|zinc ion binding	p.?(4)|p.V285L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCTGGAGCAGGTATGAAATGG	0.403000													20	94					5.03518e-11	6.84893e-11	1	1	0
SATL1	340562	broad.mit.edu	37	X	84362715	84362715	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:84362715G>T	ENST00000509231.1	-	1	1339	c.1260C>A	c.(1258-1260)ggC>ggA	p.G420G	SATL1_ENST00000332921.5_Silent_p.G233G|SATL1_ENST00000395409.3_Silent_p.G233G			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	233	N-acetyltransferase.						N-acetyltransferase activity	p.G420G(2)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTGGCTCAGGCCTGTTTGCC	0.577000													40	318					8.70804e-49	1.73475e-48	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409316	56409316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:56409316G>T	ENST00000544374.1	-	1	631	c.603C>A	c.(601-603)ttC>ttA	p.F201L	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F200L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200L(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CAATGCCATTGAAGTGGGTAT	0.423000													145	845					1.02062e-83	2.16989e-83	1	1	0
GABRR1	2569	broad.mit.edu	37	6	89891759	89891759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:89891759A>T	ENST00000435811.1	-	7	1217	c.763T>A	c.(763-765)Tac>Aac	p.Y255N	GABRR1_ENST00000454853.2_Missense_Mutation_p.Y272N|GABRR1_ENST00000369451.3_Missense_Mutation_p.Y185N	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y266N(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AAATTAATGTAGAGACGGTTG	0.448000													37	302					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3105762	3105762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:3105762G>T	ENST00000259808.4	+	9	1351	c.1053G>T	c.(1051-1053)atG>atT	p.M351I	RIPK1_ENST00000541791.1_Missense_Mutation_p.M305I|RIPK1_ENST00000380409.2_Missense_Mutation_p.M351I|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	351	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.M351I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GACTTGGGATGGGTCCTGTGG	0.493000													48	389					1.08141e-31	2.04176e-31	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31362381	31362381	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:31362381A>T	ENST00000542188.1	-	3	496	c.183T>A	c.(181-183)agT>agA	p.S61R	TRPM1_ENST00000397795.2_Missense_Mutation_p.S22R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S22R|TRPM1_ENST00000256552.6_Missense_Mutation_p.S44R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	22					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S22R(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGGTGTTGCACTTGGCAGAG	0.512000													155	970					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370817	240370817	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:240370817T>G	ENST00000319653.9	+	5	2935	c.2705T>G	c.(2704-2706)cTg>cGg	p.L902R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	902	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.L1045R(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCTCTGCAGGGTACA	0.662000													11	72					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551409	248551409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248551409C>A	ENST00000355728.2	+	1	500	c.500C>A	c.(499-501)cCg>cAg	p.P167Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167Q(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGTCTCCCGTTCTGTGCC	0.537000													11	27					1.58986e-06	1.83669e-06	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100787197	100787197	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:100787197C>T	ENST00000323346.5	+	4	837	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P175L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	175					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.P175L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGTTTATTCCCTCTGCAGCC	0.463000													38	243					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693085	30693085	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:30693085G>A	ENST00000471646.1	-	12	1644	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	CRHR2_ENST00000348438.4_Silent_p.A436A|CRHR2_ENST00000341843.4_Silent_p.A395A|CRHR2_ENST00000506074.2_3'UTR	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	409					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A409A(2)|p.A395A(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCACACAGCGGCCGTCTGCT	0.642000													35	226					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590517	1590517	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:1590517G>A	ENST00000297477.5	-	3	637	c.321C>T	c.(319-321)agC>agT	p.S107S		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	107						integral to membrane		p.S107S(1)		endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGAGGAGGAGGCTGAGCCAGG	0.622000													3	18					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46918161	46918161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:46918161G>T	ENST00000218343.4	+	11	2452	c.2154G>T	c.(2152-2154)gaG>gaT	p.E718D	PHF16_ENST00000397189.1_Missense_Mutation_p.E718D	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		718					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.E718D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCTTTAAAGAGACCACCAATA	0.498000													13	68					3.27435e-08	4.00905e-08	1	1	0
ANKEF1	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:10030593A>G	ENST00000378380.3	+	6	1705	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.Y459C(2)									ATTGAGACCTACAAGAATGTC	0.463000													27	179					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423996	190423996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:190423996C>A	ENST00000367462.3	-	2	256	c.25G>T	c.(25-27)Gct>Tct	p.A9S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		9						extracellular region		p.A9S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACAATTCAGCACCAGCTCTG	0.478000													20	49					0.00047179	0.000512287	1	1	0
OR2A5	393046	broad.mit.edu	37	7	143748277	143748277	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:143748277C>A	ENST00000408906.2	+	1	817	c.783C>A	c.(781-783)gcC>gcA	p.A261A		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261A(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTACATGGCCCCCAAGTCCC	0.572000													28	237					2.70662e-09	3.51167e-09	1	1	0
ASPM	259266	broad.mit.edu	37	1	197057403	197057403	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:197057403T>A	ENST00000367409.4	-	26	10400	c.10144A>T	c.(10144-10146)Aca>Tca	p.T3382S	ASPM_ENST00000367408.1_Missense_Mutation_p.T1047S|ASPM_ENST00000294732.7_Missense_Mutation_p.T1797S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3382					mitosis	cytoplasm|nucleus	calmodulin binding	p.T3382S(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTATTTGTTGTCTTCAGTAAA	0.333000													12	140					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96954407	96954407	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:96954407G>A	ENST00000323853.5	-	24	3329	c.3252C>T	c.(3250-3252)gtC>gtT	p.V1084V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1084	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.V1084V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCACCTGTGTGACATACACCA	0.517000													14	71					0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826167	83826167	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:83826167C>A	ENST00000299633.4	-	4	1062	c.459_splice	c.e4+1	p.K153_splice		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		153					cell proliferation	nucleus	growth factor activity	p.K153N(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTTAGTAACCTTTGAAGTAT	0.308000													23	182					3.69857e-22	6.36556e-22	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26690378	26690378	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:26690378G>T	ENST00000529632.2	+	3	1152	c.956G>T	c.(955-957)gGg>gTg	p.G319V	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G319V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G319V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G92V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G92V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	319	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.G319V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGGCTATGGGGTGGAGCTC	0.537000													56	483					2.92363e-43	5.73395e-43	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538888	27538888	+	RNA	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:27538888G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGCAGTCTGTGGATGCTCA	0.498000													11	100					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232483	117232483	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:117232483G>A	ENST00000003084.6	+	14	2394	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V	CFTR_ENST00000454343.1_Silent_p.V693V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	754			V -> M (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.V754V(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCATCAGCGTGATCAGCACTG	0.517000									Cystic Fibrosis				10	38					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77332323	77332323	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:77332323C>A	ENST00000393774.3	+	12	1388	c.1264C>A	c.(1264-1266)Caa>Aaa	p.Q422K		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	422								p.Q422K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CTATGCAGACCAACACAAAAT	0.507000													3	12					0.115264	0.117116	1	1	0
NETO1	81832	broad.mit.edu	37	18	70417550	70417550	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr18:70417550C>G	ENST00000327305.6	-	9	1945	c.1288G>C	c.(1288-1290)Gac>Cac	p.D430H	NETO1_ENST00000583169.1_Missense_Mutation_p.D430H|NETO1_ENST00000299430.2_Missense_Mutation_p.D429H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	430					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.D430H(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGTGATGGTCATGAATGCAT	0.493000													28	122					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985602	142985602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:142985602C>A	ENST00000316549.6	-	16	2088	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G627V(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCCTCCCAGGCCGAGGTCTCC	0.498000													32	142					1.69901e-12	2.41489e-12	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157475536	157475536	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:157475536C>A	ENST00000389413.3	-	12	1898	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	PTPRN2_ENST00000409483.1_Missense_Mutation_p.G590C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G611C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G628C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G651C	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	628						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G628C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGACGCCCAGGATGCAG	0.607000													4	21					0.150653	0.151251	1	1	0
CDH23	64072	broad.mit.edu	37	10	73544768	73544768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:73544768G>T	ENST00000224721.6	+	42	5643	c.5638G>T	c.(5638-5640)Gcc>Tcc	p.A1880S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1875	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A1880S(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCATGTCCTGGCCAGTGACGC	0.592000													14	105					8.60227e-14	1.25802e-13	1	1	0
MUC16	94025	broad.mit.edu	37	19	9061615	9061615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:9061615G>T	ENST00000397910.4	-	3	26034	c.25831C>A	c.(25831-25833)Cct>Act	p.P8611T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8613	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8611T(4)|p.P4244T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTTCAGGTTCTGAGCTT	0.483000													35	275					9.39024e-22	1.59445e-21	1	1	0
NDST2	8509	broad.mit.edu	37	10	75567627	75567627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:75567627C>A	ENST00000299641.4	-	4	1121	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	NDST2_ENST00000309979.6_Missense_Mutation_p.A174S	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	174	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.A174S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGCTCGTGGGCTCGGAAAAAG	0.552000													16	90					2.94398e-08	3.6691e-08	1	1	0
MAP3K19	80122	broad.mit.edu	37	2	135740865	135740865	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:135740865G>T	ENST00000392915.1	-	9	3429	c.3310C>A	c.(3310-3312)Cag>Aag	p.Q1104K	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron					mitogen-activated protein kinase kinase kinase 19																		ATATTCAGCTGTTgaaggaag	0.408000													19	129					1.9806e-07	2.34155e-07	1	1	0
KIF9	64147	broad.mit.edu	37	3	47288896	47288896	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:47288896C>T	ENST00000335044.2	-	12	1557	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	KIF9_ENST00000452770.2_Silent_p.R400R|KIF9_ENST00000265529.3_Silent_p.R400R|KIF9_ENST00000352910.4_Silent_p.R307R|KIF9_ENST00000444589.2_Silent_p.R400R|KIF9_ENST00000487440.1_5'UTR	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	400					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R400R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGTACCTCCGCACCTGGG	0.557000													15	121					0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17722223	17722223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:17722223C>A	ENST00000398056.2	-	10	1632	c.817G>T	c.(817-819)Ggc>Tgc	p.G273C	FGL1_ENST00000518650.1_Missense_Mutation_p.G273C|FGL1_ENST00000522444.1_Missense_Mutation_p.G273C|FGL1_ENST00000427924.1_Missense_Mutation_p.G273C|FGL1_ENST00000398054.1_Missense_Mutation_p.G273C|FGL1_ENST00000381841.2_Missense_Mutation_p.G273C|FGL1_ENST00000381840.2_Missense_Mutation_p.G273C			Q08830	FGL1_HUMAN	fibrinogen-like 1	273	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.G273C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GTGTAGGGGCCGCTGTAGTAT	0.423000													6	29					8.12818e-05	9.05917e-05	1	1	0
SERPINA4	5267	broad.mit.edu	37	14	95034546	95034546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:95034546G>T	ENST00000557004.1	+	4	1425	c.1004G>T	c.(1003-1005)aGg>aTg	p.R335M	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R335M|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R335M			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	335					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R335M(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATTTTGCCCAGGCTGGGCTTC	0.458000													19	115					1.22574e-08	1.55056e-08	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48510590	48510590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:48510590C>A	ENST00000446524.1	+	1	322	c.246C>A	c.(244-246)ggC>ggA	p.G82G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	82			G -> D (in dbSNP:rs12805819).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G82G(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGATTTCAGGCTTGTTCTTTG	0.428000													47	414					9.22156e-22	1.57639e-21	1	1	0
SNX9	51429	broad.mit.edu	37	6	158317937	158317937	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:158317937G>C	ENST00000392185.3	+	5	550	c.379G>C	c.(379-381)Gcc>Ccc	p.A127P		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	127					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.A127P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGGCTGGGGGGCCCAGCCAGA	0.587000													18	110					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27209238	27209238	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:27209238C>T	ENST00000394906.2	-	9	839	c.762G>A	c.(760-762)aaG>aaA	p.K254K	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.K199K|FLOT2_ENST00000394908.4_Silent_p.K199K			Q14254	FLOT2_HUMAN	flotillin 2	199					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		p.K199K(2)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAGCATCTCCTTCTTGCACT	0.522000													20	158					0	0	0.043863	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619113	46619113	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:46619113T>C	ENST00000242848.4	-	3	552	c.204A>G	c.(202-204)aaA>aaG	p.K68K	ZC3H13_ENST00000282007.3_Silent_p.K68K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	68							nucleic acid binding|zinc ion binding	p.K68K(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGCTATAACCTTTACCACGAG	0.378000													5	147					0	0	0.014758	0	0
NIT1	4817	broad.mit.edu	37	1	161088937	161088937	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:161088937G>T	ENST00000368008.1	+	3	171	c.112G>T	c.(112-114)Gct>Tct	p.A38S	NIT1_ENST00000368007.4_Missense_Mutation_p.A23S|NIT1_ENST00000392190.5_Missense_Mutation_p.A2S|NIT1_ENST00000368009.2_Missense_Mutation_p.A38S|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	38					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGAGCCATGGCTATCTCCTC	0.512000													32	125					1.30015e-28	2.6303e-28	0.074837	1	0
NOMO1	23420	broad.mit.edu	37	16	14982998	14982998	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:14982998G>T	ENST00000287667.7	+	29	3541	c.3370G>T	c.(3370-3372)Gac>Tac	p.D1124Y		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1124						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.D1124Y(2)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ATCCCAGTATGACTACATCTT	0.423000													44	369					1.59911e-31	3.28567e-31	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9089295	9089295	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:9089295G>T	ENST00000397910.4	-	1	2723	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	840	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L840L(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACACTTGGGAGGCTGAGAG	0.468000													16	144					4.35082e-09	6.21883e-09	0.055883	1	0
RYR2	6262	broad.mit.edu	37	1	237819276	237819276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:237819276T>A	ENST00000366574.2	+	53	8438	c.8121T>A	c.(8119-8121)gaT>gaA	p.D2707E	RYR2_ENST00000360064.6_Missense_Mutation_p.D2705E|RYR2_ENST00000542537.1_Missense_Mutation_p.D2691E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2707	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D2705E(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCTGTTGATACCTCAAAGT	0.358000													15	41					0	0	0.132662	0	0
DRC1	92749	broad.mit.edu	37	2	26667141	26667141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:26667141G>T	ENST00000288710.2	+	9	1154	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.K360N(2)									AGCAAATAAAGCAGTTTCAGG	0.408000													11	95					0.00829132	0.00861904	0.069234	1	0
BOC	91653	broad.mit.edu	37	3	112993283	112993283	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:112993283C>A	ENST00000495514.1	+	9	2000	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	BOC_ENST00000273395.4_Silent_p.P432P|BOC_ENST00000355385.3_Silent_p.P432P			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	432					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.P432P(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGTATCACCCTCCAAACTCG	0.607000													7	75					1.06961e-07	1.42075e-07	0.038147	1	0
ACTL7B	10880	broad.mit.edu	37	9	111618088	111618088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:111618088C>T	ENST00000374667.3	-	1	1151	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	41						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.M41I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTGGGCTTCATCTTGAGCT	0.657000													18	107					0	0	0.043863	0	0
UBXN10	127733	broad.mit.edu	37	1	20517245	20517245	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:20517245C>T	ENST00000375099.3	+	2	275	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	64								p.P64L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CATCATATACCATCTCCGCCT	0.537000													9	76					0	0	0.069234	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719632	140719632	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:140719632T>C	ENST00000394576.2	+	1	1094	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.I365T(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCATAATTGGGCTT	0.428000													27	179					0	0	0.116897	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650121	75650121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:75650121G>T	ENST00000361470.2	+	1	2076	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	600	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.E600*(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCCAAGGAGGCTGAGAT	0.502000													6	39					2.0095e-06	2.44675e-06	0.029380	1	0
CCDC88A	55704	broad.mit.edu	37	2	55563913	55563913	+	Silent	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:55563913A>G	ENST00000436346.1	-	14	2401	c.1560T>C	c.(1558-1560)agT>agC	p.S520S	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.S520S|CCDC88A_ENST00000336838.6_Silent_p.S520S|CCDC88A_ENST00000263630.8_Silent_p.S520S|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	520					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.S520S(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATTCTGAAGACTTTGCTTTT	0.318000													11	66					0	0	0.069234	0	0
DZIP1	22873	broad.mit.edu	37	13	96274626	96274626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:96274626G>A	ENST00000347108.3	-	7	1513	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	DZIP1_ENST00000361156.3_Missense_Mutation_p.H361Y|DZIP1_ENST00000361396.2_Missense_Mutation_p.H361Y|DZIP1_ENST00000376829.2_Missense_Mutation_p.H361Y			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	361					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.H361Y(4)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGACATTATGGAAATCCTGG	0.423000													17	141					0	0	0.146539	0	0
OR5F1	338674	broad.mit.edu	37	11	55761412	55761412	+	Silent	SNP	C	C	G	rs144082157	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:55761412C>G	ENST00000278409.1	-	1	689	c.690G>C	c.(688-690)tcG>tcC	p.S230S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCCCTCCCCCGAATGCATAG	0.478000													8	41					0	0	0.038147	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618186	77618186	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:77618186G>T	ENST00000521891.2	+	2	2311	c.1863G>T	c.(1861-1863)gtG>gtT	p.V621V	ZFHX4_ENST00000455469.2_Silent_p.V621V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.V621V|ZFHX4_ENST00000518282.1_Silent_p.V621V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	621						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V621V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCGACACTGTGTTGGGGTCTT	0.532000										HNSCC(33;0.089)			13	72					0.000151284	0.000171499	0.105934	1	0
ALDH5A1	7915	broad.mit.edu	37	6	24503644	24503644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:24503644G>C	ENST00000357578.3	+	3	737	c.592G>C	c.(592-594)Gct>Cct	p.A198P	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A110P|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A198P|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A170P	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	198					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.A198P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CATAGGCGTGGCTGCAGTCAT	0.567000													6	54					0	0	0.029380	0	0
ZNF766	90321	broad.mit.edu	37	19	52794388	52794388	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:52794388T>C	ENST00000439461.1	+	4	1387	c.1344T>C	c.(1342-1344)ttT>ttC	p.F448F	ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Intron|ZNF766_ENST00000359102.4_Intron	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F448F(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GTAAGGTCTTTAGGCACAGTT	0.413000													7	191					0	0	0.029380	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690378	26690378	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:26690378G>T	ENST00000529632.2	+	3	1152	c.956G>T	c.(955-957)gGg>gTg	p.G319V	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G319V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G92V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G319V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G92V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	319	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.G319V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGGCTATGGGGTGGAGCTC	0.537000													19	115					1.45105e-14	2.52733e-14	0.038395	1	0
LPPR5	163404	broad.mit.edu	37	1	99418685	99418685	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:99418685G>T	ENST00000370188.3	-	3	922	c.562C>A	c.(562-564)Cga>Aga	p.R188R	LPPR5_ENST00000263177.4_Silent_p.R188R	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		188						integral to membrane	hydrolase activity	p.R188R(2)									AAGGTTTTTCGGGCTCTCATG	0.423000													11	113					3.07112e-06	3.70506e-06	0.080935	1	0
ADAM30	11085	broad.mit.edu	37	1	120438759	120438759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:120438759C>A	ENST00000369400.1	-	1	359	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q67H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCCTTTTAACTGCAGTAGGT	0.542000													18	98					0.000132079	0.000150376	0.049695	1	0
IHH	3549	broad.mit.edu	37	2	219922285	219922285	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:219922285G>A	ENST00000295731.5	-	2	446	c.447C>T	c.(445-447)cgC>cgT	p.R149R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	149					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.R149R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACCGCGCGGCCCTCAT	0.617000													7	31					0	0	0.029380	0	0
IPO7	10527	broad.mit.edu	37	11	9463643	9463643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:9463643A>G	ENST00000379719.3	+	24	3060	c.2918A>G	c.(2917-2919)aAt>aGt	p.N973S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	973					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.N973S(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAAAATCGTAATCCTGTGTGG	0.403000													16	96					0	0	0.043863	0	0
ANKRD55	79722	broad.mit.edu	37	5	55412488	55412488	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:55412488A>T	ENST00000341048.4	-	9	1070	c.919T>A	c.(919-921)Tac>Aac	p.Y307N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.Y264N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Y19N|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	306								p.Y307N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGACCGCAGTACAGGGCATAG	0.507000													25	133					0	0	0.116897	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913163	111913163	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:111913163C>A	ENST00000368761.5	-	2	605	c.127G>T	c.(127-129)Gca>Tca	p.A43S	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.A43S|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.A52S	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	52					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.A52S(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGTTGGGTGCCATGTTCCTT	0.478000													21	146					1.96292e-10	3.03676e-10	0.055883	1	0
EDEM2	55741	broad.mit.edu	37	20	33714148	33714148	+	Missense_Mutation	SNP	C	C	A	rs148170838	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:33714148C>A	ENST00000540582.1	-	12	1473	c.752G>T	c.(751-753)cGc>cTc	p.R251L	EDEM2_ENST00000374491.2_Missense_Mutation_p.R255L|EDEM2_ENST00000542871.1_Missense_Mutation_p.R16L|EDEM2_ENST00000541621.1_Missense_Mutation_p.R71L|EDEM2_ENST00000374492.3_Missense_Mutation_p.R292L			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	292					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.R292L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCATCGAAGCGGGTGTAGTT	0.532000													19	116					8.10497e-08	1.09313e-07	0.055883	1	0
TDRD5	163589	broad.mit.edu	37	1	179562935	179562935	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:179562935C>A	ENST00000444136.1	+	3	823	c.573C>A	c.(571-573)acC>acA	p.T191T	TDRD5_ENST00000367614.1_Silent_p.T191T|TDRD5_ENST00000294848.8_Silent_p.T191T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	191	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.T191T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGAGCAGACCAGAGCAGGTT	0.433000													48	106					2.24722e-20	4.25193e-20	0.139131	1	0
TNC	3371	broad.mit.edu	37	9	117803262	117803262	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:117803262C>T	ENST00000350763.4	-	19	5761	c.5350G>A	c.(5350-5352)Ggc>Agc	p.G1784S	TNC_ENST00000423613.2_Missense_Mutation_p.G1511S|TNC_ENST00000340094.3_Missense_Mutation_p.G1420S|TNC_ENST00000341037.4_Missense_Mutation_p.G1602S|TNC_ENST00000542877.1_Missense_Mutation_p.G1421S|TNC_ENST00000537320.1_Missense_Mutation_p.G1147S|TNC_ENST00000535648.1_Missense_Mutation_p.G1329S|TNC_ENST00000345230.3_Missense_Mutation_p.G1147S|TNC_ENST00000346706.3_Missense_Mutation_p.G1238S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1784	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.G1784S(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCTCAAAGCCCTTCATGGCG	0.502000													39	118					0	0	0.092188	0	0
ASPM	259266	broad.mit.edu	37	1	197057403	197057403	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:197057403T>A	ENST00000367409.4	-	26	10400	c.10144A>T	c.(10144-10146)Aca>Tca	p.T3382S	ASPM_ENST00000367408.1_Missense_Mutation_p.T1047S|ASPM_ENST00000294732.7_Missense_Mutation_p.T1797S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3382					mitosis	cytoplasm|nucleus	calmodulin binding	p.T3382S(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTATTTGTTGTCTTCAGTAAA	0.333000													21	210					0	0	0.055883	0	0
FUBP1	8880	broad.mit.edu	37	1	78430042	78430042	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:78430042C>A	ENST00000370767.1	-	11	925		c.e11-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAATGGGGACCTTATGTAAAA	0.338000			"""F, N"""		oligodendroglioma								8	62					0.00448238	0.00469668	0.047766	1	0
OR12D2	26529	broad.mit.edu	37	6	29364990	29364990	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:29364990A>C	ENST00000383555.2	+	1	575	c.514A>C	c.(514-516)Atc>Ctc	p.I172L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I172L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCCAACCGTATCCATCATTT	0.478000													13	244					0	0	0.033300	0	0
MECOM	2122	broad.mit.edu	37	3	168812877	168812877	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:168812877A>T	ENST00000464456.1	-	11	3615	c.2415T>A	c.(2413-2415)aaT>aaA	p.N805K	MECOM_ENST00000392736.3_Missense_Mutation_p.N814K|MECOM_ENST00000264674.3_Missense_Mutation_p.N879K|MECOM_ENST00000494292.1_Missense_Mutation_p.N993K|MECOM_ENST00000460814.1_Missense_Mutation_p.N805K|MECOM_ENST00000472280.1_Missense_Mutation_p.N815K|MECOM_ENST00000468789.1_Missense_Mutation_p.N814K|MECOM_ENST00000433243.2_Missense_Mutation_p.N815K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.N814K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACATGTTCCCATTCTCATGTT	0.323000													12	88					0	0	0.105934	0	0
KEAP1	9817	broad.mit.edu	37	19	10610279	10610279	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:10610279G>A	ENST00000171111.5	-	2	978	c.431C>T	c.(430-432)tCc>tTc	p.S144F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S144F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	144	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S144F(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGGAGATGGAGGCCGTGTA	0.587000													11	51					0	0	0.069234	0	0
FLNB	2317	broad.mit.edu	37	3	58110122	58110122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:58110122G>T	ENST00000357272.4	+	22	3953	c.3788G>T	c.(3787-3789)gGt>gTt	p.G1263V	FLNB_ENST00000295956.4_Missense_Mutation_p.G1263V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1263V|FLNB_ENST00000419752.2_Missense_Mutation_p.G1094V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1094V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1263V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1263V|FLNB_ENST00000348383.5_Missense_Mutation_p.G1263V			O75369	FLNB_HUMAN	filamin B, beta	1263	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G1263V(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGGTTGGGGGTGACCACATC	0.572000													19	84					5.3912e-06	6.47437e-06	0.038395	1	0
SEMA4A	64218	broad.mit.edu	37	1	156126349	156126349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:156126349C>G	ENST00000368285.3	+	3	551	c.284C>G	c.(283-285)cCc>cGc	p.P95R	SEMA4A_ENST00000355014.2_Missense_Mutation_p.P95R|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P95R	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	95	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.P95R(2)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGGGTCCCCAGGCTAAAG	0.567000													15	43					0	0	0.033300	0	0
COL24A1	255631	broad.mit.edu	37	1	86512537	86512537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:86512537G>T	ENST00000370571.2	-	12	2287	c.1921C>A	c.(1921-1923)Cgt>Agt	p.R641S	COL24A1_ENST00000436319.1_Missense_Mutation_p.R641S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	641			R -> H (in dbSNP:rs60891279).		cell adhesion	collagen	extracellular matrix structural constituent	p.R641S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ttctttccacggatcccagga	0.313000													13	154					1.05317e-09	1.55609e-09	0.119110	1	0
FLRT2	23768	broad.mit.edu	37	14	86089492	86089492	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:86089492G>T	ENST00000330753.4	+	2	2401	c.1634G>T	c.(1633-1635)gGc>gTc	p.G545V	FLRT2_ENST00000554746.1_Missense_Mutation_p.G545V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	545					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G545V(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGCTGGCGGGCTTGATCGGG	0.587000													11	88					4.36969e-10	6.56702e-10	0.105934	1	0
ANGPTL1	9068	broad.mit.edu	37	1	178834573	178834573	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:178834573C>G	ENST00000234816.2	-	3	786	c.339G>C	c.(337-339)gtG>gtC	p.V113V	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Silent_p.V113V|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	113						extracellular space	receptor binding	p.V113V(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTACCTCATTCACAATGTTTC	0.438000													8	172					0	0	0.047766	0	0
SCN3A	6328	broad.mit.edu	37	2	165969467	165969467	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:165969467G>T	ENST00000360093.3	-	21	4262	c.3771C>A	c.(3769-3771)ctC>ctA	p.L1257L	SCN3A_ENST00000409101.3_Silent_p.L1208L|SCN3A_ENST00000283254.7_Silent_p.L1257L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1257						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1257L(2)|p.L1208L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAACCCATTTGAGAAGCATTT	0.323000													73	394					4.09166e-32	8.47328e-32	0.139131	1	0
ALMS1P	200420	broad.mit.edu	37	2	73898278	73898278	+	RNA	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:73898278G>T	ENST00000450720.1	+	0	307					NR_003683.2																						ACACAAGCAGGTAATTACTTG	0.353000													23	164					7.87624e-14	1.35389e-13	0.076483	1	0
FOXP3	50943	broad.mit.edu	37	X	49108150	49108150	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:49108150A>T	ENST00000376207.4	-	11	1308	c.1121T>A	c.(1120-1122)tTc>tAc	p.F374Y	FOXP3_ENST00000557224.1_Missense_Mutation_p.F339Y|FOXP3_ENST00000518685.1_Missense_Mutation_p.F339Y|FOXP3_ENST00000376199.2_Missense_Mutation_p.F339Y|FOXP3_ENST00000455775.2_Missense_Mutation_p.F347Y|FOXP3_ENST00000376197.1_Missense_Mutation_p.F324Y	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	374					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding	p.F374Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATGGTTTCTGAAGAAGGCAAA	0.587000													5	25					0	0	0.021553	0	0
NRCAM	4897	broad.mit.edu	37	7	107808728	107808728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:107808728C>A	ENST00000379028.3	-	29	3777	c.3307G>T	c.(3307-3309)Gca>Tca	p.A1103S	NRCAM_ENST00000425651.2_Missense_Mutation_p.A1103S|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1103S|NRCAM_ENST00000379024.4_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1103	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.A1103S(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACTGCCTGCTACACCATAT	0.363000													9	73					3.09899e-07	3.97577e-07	0.047766	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232574993	232574993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:232574993C>A	ENST00000366630.1	-	14	4250	c.3892G>T	c.(3892-3894)Gct>Tct	p.A1298S	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A372S|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1298S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1298					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A1298S(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGCATCAGCCCACTGCTCG	0.662000													16	47					1.56452e-12	2.62083e-12	0.043863	1	0
ABCB4	5244	broad.mit.edu	37	7	87031499	87031499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:87031499C>G	ENST00000265723.4	-	28	3885	c.3774G>C	c.(3772-3774)aaG>aaC	p.K1258N	ABCB4_ENST00000453593.1_Missense_Mutation_p.K1204N|ABCB4_ENST00000359206.3_Missense_Mutation_p.K1251N|ABCB4_ENST00000358400.3_Missense_Mutation_p.K1204N|ABCB4_ENST00000545634.1_Missense_Mutation_p.K1251N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1258	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.K1251N(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCCATGCTCCTTGACTCTCC	0.498000													15	145					0	0	0.146539	0	0
TNR	7143	broad.mit.edu	37	1	175325510	175325510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:175325510C>A	ENST00000367674.1	-	16	3771	c.3063G>T	c.(3061-3063)atG>atT	p.M1021I	TNR_ENST00000263525.2_Missense_Mutation_p.M1021I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1021	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.M1021I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGGCATACATGGTGGCAG	0.507000													26	137					4.26978e-12	7.10729e-12	0.083992	1	0
CEACAM7	1087	broad.mit.edu	37	19	42191009	42191009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:42191009C>A	ENST00000006724.3	-	2	409	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70W|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70W|CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70W|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACCCTTTCCCCTTTGTACCAG	0.438000													18	146					1.33834e-09	1.94466e-09	0.043863	1	0
KIAA1210	57481	broad.mit.edu	37	X	118220652	118220652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:118220652C>A	ENST00000402510.2	-	11	4540	c.4541G>T	c.(4540-4542)aGg>aTg	p.R1514M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1514								p.R1514M(2)|p.R1338M(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTATGTCCCCTGCCTACAGA	0.502000													14	61					7.93312e-07	9.8882e-07	0.119110	1	0
SEZ6L	23544	broad.mit.edu	37	22	26769422	26769422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:26769422C>T	ENST00000404234.3	+	14	2996	c.2800C>T	c.(2800-2802)Caa>Taa	p.Q934*	SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.Q934*|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.Q707*	NM_001184773.1|NM_021115.4	NP_001171702.1|NP_066938.2	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	934						endoplasmic reticulum membrane|integral to membrane		p.Q934*(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTTAATCAAGACAGTTT	0.353000													7	82					0	0	0.038147	0	0
SLC36A3	285641	broad.mit.edu	37	5	150656993	150656993	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:150656993G>T	ENST00000335230.3	-	10	1785	c.1374C>A	c.(1372-1374)atC>atA	p.I458I	SLC36A3_ENST00000377713.3_Silent_p.I499I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	458						integral to membrane		p.I458I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAATGGCTGATGGGTTGGG	0.478000													20	203					8.34094e-07	1.03475e-06	0.049695	1	0
IQGAP2	10788	broad.mit.edu	37	5	75989204	75989204	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:75989204G>T	ENST00000274364.6	+	31	4227	c.3930G>T	c.(3928-3930)gtG>gtT	p.V1310V	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Silent_p.V806V|IQGAP2_ENST00000502745.1_Silent_p.V806V|IQGAP2_ENST00000379730.3_Silent_p.V812V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1310					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.V1310V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATTGATGTGATCCGGAACC	0.398000													7	40					2.0095e-06	2.44675e-06	0.029380	1	0
LAMP5	24141	broad.mit.edu	37	20	9496207	9496207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:9496207C>A	ENST00000246070.2	+	2	664	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	LAMP5_ENST00000427562.2_Missense_Mutation_p.L58I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	58						integral to membrane		p.L58I(2)									GACGACGTGTCTCATGGCAGA	0.463000													22	126					7.41877e-09	1.04339e-08	0.062417	1	0
NPNT	255743	broad.mit.edu	37	4	106863785	106863785	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:106863785G>C	ENST00000379987.2	+	8	1301	c.1085G>C	c.(1084-1086)aGt>aCt	p.S362T	NPNT_ENST00000427316.2_Missense_Mutation_p.S392T|NPNT_ENST00000514622.1_Missense_Mutation_p.S362T|NPNT_ENST00000305572.8_Missense_Mutation_p.S362T|NPNT_ENST00000453617.2_Missense_Mutation_p.S379T|NPNT_ENST00000506666.1_Missense_Mutation_p.S392T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	362	Pro-rich.				cell differentiation	membrane	calcium ion binding	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCAGCTGCCAGTACACCTCCA	0.512000													7	93					0	0	0.058154	0	0
NEK11	79858	broad.mit.edu	37	3	130881250	130881250	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:130881250A>T	ENST00000383366.4	+	11	1255		c.e11-1		NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000510769.1_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000412440.2_Splice_Site|NEK11_ENST00000356918.4_Splice_Site|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000508196.1_Splice_Site	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGTTATTTATAGGCAAAAAAG	0.413000													63	359					0	0	0.139131	0	0
CEACAM7	1087	broad.mit.edu	37	19	42191008	42191008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:42191008C>A	ENST00000006724.3	-	2	410	c.209G>T	c.(208-210)gGg>gTg	p.G70V	CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70V|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70V|CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70V|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CACCCTTTCCCCTTTGTACCA	0.438000													18	147					1.33834e-09	1.94466e-09	0.043863	1	0
KIF13B	23303	broad.mit.edu	37	8	29035078	29035078	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:29035078C>A	ENST00000524189.1	-	9	776	c.738G>T	c.(736-738)gtG>gtT	p.V246V	KIF13B_ENST00000521515.1_Silent_p.V246V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	246	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.V246V(4)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGAGTTTGCCCACTTTCTCTC	0.502000													16	148					1.67942e-08	2.31249e-08	0.038395	1	0
MUC16	94025	broad.mit.edu	37	19	9046706	9046706	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:9046706G>T	ENST00000397910.4	-	5	35128	c.34925C>A	c.(34924-34926)aCt>aAt	p.T11642N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11644	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7275N(2)|p.T11642N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTACTAGTGTCTGTTGC	0.517000													20	107					1.28384e-07	1.65515e-07	0.062417	1	0
RARS2	57038	broad.mit.edu	37	6	88228554	88228554	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:88228554T>A	ENST00000369536.5	-	15	1338	c.1293A>T	c.(1291-1293)gcA>gcT	p.A431A	RARS2_ENST00000497828.1_5'UTR	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	431					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.A431A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GAATAATGAGTGCTGCGAGCC	0.463000													9	71					0	0	0.058154	0	0
SLC20A2	6575	broad.mit.edu	37	8	42287590	42287590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:42287590C>A	ENST00000342228.3	-	9	2070	c.1701G>T	c.(1699-1701)acG>acT	p.T567T	SLC20A2_ENST00000520262.1_Silent_p.T567T|SLC20A2_ENST00000520179.1_Silent_p.T567T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	567					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T567T(2)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCTGGACGGCGTGATGGGAG	0.607000													7	46					1.06961e-07	1.42075e-07	0.038147	1	0
DUSP27	92235	broad.mit.edu	37	1	167096659	167096659	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:167096659G>T	ENST00000361200.2	+	6	2457	c.2291G>T	c.(2290-2292)gGg>gTg	p.G764V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G764V|DUSP27_ENST00000443333.1_Missense_Mutation_p.G764V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	764					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G764V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTGCCTGGGGGATGACCAA	0.567000													9	71					1.49906e-05	1.76795e-05	0.119110	1	0
TNXB	7148	broad.mit.edu	37	6	32052275	32052275	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:32052275C>A	ENST00000375244.3	-	8	3561	c.3360G>T	c.(3358-3360)ctG>ctT	p.L1120L	TNXB_ENST00000375247.2_Silent_p.L1120L			P22105	TENX_HUMAN	tenascin XB	1207	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L1207L(2)|p.L1120L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCAGGATCCAGGGAGGTGA	0.582000													6	28					0.00116845	0.00125429	0.021553	1	0
UBR5	51366	broad.mit.edu	37	8	103266711	103266711	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:103266711G>A	ENST00000520539.1	-	59	8825	c.8219C>T	c.(8218-8220)cCa>cTa	p.P2740L	UBR5_ENST00000220959.4_Missense_Mutation_p.P2739L|UBR5_ENST00000521922.1_Missense_Mutation_p.P2733L|UBR5_ENST00000518205.1_Missense_Mutation_p.P468L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2740	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.P2740L(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACTGGCTGGCAGTGATGG	0.408000													11	73					0	0	0.069234	0	0
PYCRL	65263	broad.mit.edu	37	8	144689140	144689140	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:144689140G>A	ENST00000220966.6	-	3	384	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	107					proline biosynthetic process		pyrroline-5-carboxylate reductase activity	p.L107L(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGGGTGCTCAGAGACACCCCA	0.632000													9	65					0	0	0.047766	0	0
RYR3	6263	broad.mit.edu	37	15	33945030	33945030	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:33945030C>A	ENST00000389232.4	+	32	4324	c.4254C>A	c.(4252-4254)gcC>gcA	p.A1418A	RYR3_ENST00000415757.3_Silent_p.A1418A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1418	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1418A(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGATCTGGCCATGGGCATGT	0.577000													10	63					1.76689e-08	2.42028e-08	0.058154	1	0
COL6A6	131873	broad.mit.edu	37	3	130285781	130285781	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:130285781C>A	ENST00000358511.6	+	4	1549	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	COL6A6_ENST00000453409.2_Silent_p.I506I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	506	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.I506I(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGAGAATATCAGGCAGATGG	0.473000													24	104					2.89027e-11	4.66344e-11	0.069288	1	0
COL22A1	169044	broad.mit.edu	37	8	139737684	139737684	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:139737684C>A	ENST00000303045.6	-	24	2586		c.e24-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity	p.?(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGAGGGCCCTGTAGAGAAA	0.572000										HNSCC(7;0.00092)			21	111					3.7963e-18	7.03118e-18	0.083992	1	0
PRPF18	8559	broad.mit.edu	37	10	13655795	13655795	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:13655795C>T	ENST00000378572.3	+	7	794	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	212					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		p.R212C(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTATGTGAAACGCAGTGTGCA	0.453000													16	84					0	0	0.146539	0	0
HHATL	57467	broad.mit.edu	37	3	42739015	42739015	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:42739015G>T	ENST00000441594.1	-	7	1111	c.850C>A	c.(850-852)Cca>Aca	p.P284T	HHATL_ENST00000310417.5_Missense_Mutation_p.P284T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	284					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.P284T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCACTGTCTGGGAGGCGGTTG	0.617000													11	105					1.67942e-08	2.31249e-08	0.038395	1	0
CACNA2D1	781	broad.mit.edu	37	7	81662148	81662148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:81662148G>T	ENST00000356860.3	-	12	1446	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q370K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	370	VWFA.					voltage-gated calcium channel complex	metal ion binding	p.Q370K(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATATCTCCTGGGCTCTCTCT	0.279000													12	94					7.93312e-07	9.8882e-07	0.119110	1	0
KEL	3792	broad.mit.edu	37	7	142641424	142641424	+	Missense_Mutation	SNP	G	G	T	rs61729050		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:142641424G>T	ENST00000355265.2	-	13	1951	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	493					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q493K(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGTATTCTTGTCGGGCCAGC	0.522000													11	98					1.08611e-07	1.42113e-07	0.080935	1	0
BCOR	54880	broad.mit.edu	37	X	39932097	39932097	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:39932097G>A	ENST00000342274.4	-	4	2864	c.2502C>T	c.(2500-2502)agC>agT	p.S834S	BCOR_ENST00000397354.3_Silent_p.S834S|BCOR_ENST00000378455.4_Silent_p.S834S|BCOR_ENST00000378444.4_Silent_p.S834S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	834					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.S834S(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGCTCAGCGCTCTGGCCAA	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						13	62					0	0	0.093190	0	0
OR52N2	390077	broad.mit.edu	37	11	5841641	5841641	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:5841641C>A	ENST00000317037.2	+	1	98	c.76C>A	c.(76-78)Cac>Aac	p.H26N	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H26N(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCCACACACATCTGGAT	0.547000													8	86					1.61879e-10	2.51918e-10	0.093190	1	0
C1orf94	84970	broad.mit.edu	37	1	34677938	34677938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:34677938C>A	ENST00000488417.1	+	6	1772	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	C1orf94_ENST00000373374.3_Missense_Mutation_p.S361Y	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	361							protein binding	p.S551Y(2)|p.S361Y(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAAGATGTCTGCCAACCCC	0.567000													5	64					0.00307968	0.00325283	0.038147	1	0
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:147796051C>T	ENST00000513335.1	-	8	893	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000325106.4_Missense_Mutation_p.E206K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448000													6	38					0	0	0.069234	0	0
ZNF165	7718	broad.mit.edu	37	6	28056964	28056964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:28056964C>T	ENST00000377325.1	+	4	1730	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	392					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R392*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TAGACATCGGCGAATTCACAC	0.448000													5	93					0	0	0.021553	0	0
IL16	3603	broad.mit.edu	37	15	81592014	81592014	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:81592014C>A	ENST00000394660.2	+	14	2707	c.2347C>A	c.(2347-2349)Cct>Act	p.P783T	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.P82T|IL16_ENST00000302987.4_Missense_Mutation_p.P783T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAGAAAGGTCCTCCTGTGGC	0.567000													8	83					0.000157383	0.000176888	0.038147	1	0
TRIM11	81559	broad.mit.edu	37	1	228584677	228584677	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:228584677C>A	ENST00000493030.2	-	4	4164	c.455G>T	c.(454-456)gGa>gTa	p.G152V	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.G277V|TRIM11_ENST00000366699.3_Missense_Mutation_p.G277V			Q96F44	TRI11_HUMAN	tripartite motif containing 11	277					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	p.G277V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CTCTACCAGTCCCGGGACCCT	0.637000													11	82					6.31663e-08	8.60763e-08	0.132662	1	0
SOX6	55553	broad.mit.edu	37	11	15994629	15994629	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:15994629C>A	ENST00000352083.6	-	16	2290	c.2213G>T	c.(2212-2214)gGa>gTa	p.G738V	SOX6_ENST00000527619.1_Missense_Mutation_p.G714V|SOX6_ENST00000316399.6_Missense_Mutation_p.G718V|SOX6_ENST00000528252.1_Missense_Mutation_p.G711V|SOX6_ENST00000528429.1_Missense_Mutation_p.G738V|SOX6_ENST00000396356.3_Missense_Mutation_p.G718V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	738					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G718V(2)|p.G714V(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACACCTGTTCCTGTGGTGAT	0.468000													8	71					5.4927e-09	7.76656e-09	0.047766	1	0
DCDC1	341019	broad.mit.edu	37	11	30930520	30930520	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:30930520C>A	ENST00000597505.1	-	27	3890	c.3891G>T	c.(3889-3891)gtG>gtT	p.V1297V	DCDC1_ENST00000406071.2_Silent_p.V32V|DCDC1_ENST00000339794.5_Silent_p.V376V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.V376V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTCTTTAATCACAGATGATG	0.318000													12	109					2.23348e-06	2.70694e-06	0.146539	1	0
TRPV4	59341	broad.mit.edu	37	12	110224614	110224614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:110224614C>A	ENST00000418703.2	-	13	2331	c.2237G>T	c.(2236-2238)cGc>cTc	p.R746L	TRPV4_ENST00000261740.2_Missense_Mutation_p.R746L|TRPV4_ENST00000346520.2_Missense_Mutation_p.R686L|TRPV4_ENST00000541794.1_Missense_Mutation_p.R699L|TRPV4_ENST00000392719.2_Missense_Mutation_p.R699L|TRPV4_ENST00000537083.1_Missense_Mutation_p.R686L|TRPV4_ENST00000536838.1_Missense_Mutation_p.R712L|TRPV4_ENST00000544971.1_Missense_Mutation_p.R639L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	746					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.R746L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGGAAGGAGCGCTCAATGTC	0.652000													5	36					3.59834e-05	4.18744e-05	0.021553	1	0
TBX5	6910	broad.mit.edu	37	12	114804095	114804095	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:114804095T>A	ENST00000310346.4	-	8	1523	c.857A>T	c.(856-858)aAt>aTt	p.N286I	TBX5_ENST00000349716.5_Missense_Mutation_p.N236I|TBX5_ENST00000405440.2_Missense_Mutation_p.N286I|TBX5_ENST00000526441.1_Missense_Mutation_p.N286I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	286					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N286I(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGACCCCAAATTGGATGAGGT	0.577000													20	126					0	0	0.091800	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611369	84611369	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:84611369G>T	ENST00000286744.5	+	18	2363	c.2139G>T	c.(2137-2139)ggG>ggT	p.G713G	ADAMTSL3_ENST00000567476.1_Silent_p.G713G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	713	TSP type-1 5.		G -> R (in dbSNP:rs34047645).			proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G713G(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTTGGGGGCCCTGCTCAG	0.537000													12	107					6.72482e-11	1.06544e-10	0.132662	1	0
ZNF777	27153	broad.mit.edu	37	7	149153030	149153030	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:149153030G>A	ENST00000247930.4	-	2	407	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P28P(2)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTTTCTCGGGGGAGTCCAG	0.547000													16	99					0	0	0.146539	0	0
PLCB1	23236	broad.mit.edu	37	20	8862361	8862361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:8862361G>T	ENST00000338037.6	+	32	3543	c.3516G>T	c.(3514-3516)aaG>aaT	p.K1172N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1172					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.K1172N(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAAAGGAAAGATCAGTGAAG	0.517000													42	245					1.00001e-27	1.99244e-27	0.111260	1	0
KIAA1024	23251	broad.mit.edu	37	15	79750731	79750731	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:79750731G>A	ENST00000305428.3	+	2	2317	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	748						integral to membrane		p.E748K(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATGAGGAGGAGATAAAAGA	0.468000													12	74					0	0	0.093190	0	0
UMOD	7369	broad.mit.edu	37	16	20352502	20352502	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:20352502C>G	ENST00000396134.2	-	8	1710	c.1587G>C	c.(1585-1587)ctG>ctC	p.L529L	UMOD_ENST00000302509.4_Silent_p.L496L|UMOD_ENST00000396142.2_Silent_p.L496L|UMOD_ENST00000424589.1_Silent_p.L529L|UMOD_ENST00000570689.1_Silent_p.L496L|UMOD_ENST00000396138.4_Silent_p.L545L|UMOD_ENST00000570331.1_5'UTR	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	496	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.L496L(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAAATCGGGACAGGTCGCCCC	0.567000													4	49					0	0	0.014758	0	0
AHNAK	79026	broad.mit.edu	37	11	62287633	62287633	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:62287633G>A	ENST00000378024.4	-	5	14530	c.14256C>T	c.(14254-14256)ggC>ggT	p.G4752G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4752					nervous system development	nucleus	protein binding	p.G4752G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTCTGGGCCCTTGAGGT	0.507000													23	206					0	0	0.069288	0	0
GK5	256356	broad.mit.edu	37	3	141900397	141900397	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:141900397T>C	ENST00000392993.2	-	11	1105	c.954A>G	c.(952-954)ccA>ccG	p.P318P		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	318					glycerol metabolic process		ATP binding|glycerol kinase activity	p.P318P(2)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACCCAATTAATGGATAAAAGC	0.363000													12	89					0	0	0.080935	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369995	86369995	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:86369995C>T	ENST00000400286.2	-	2	1247	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	217						integral to membrane		p.D217N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CATTTGTTGTCCTCCAACTGA	0.413000													45	146					0	0	0.117977	0	0
SYNE1	23345	broad.mit.edu	37	6	152949423	152949423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:152949423G>T	ENST00000367255.5	-	3	645	c.44C>A	c.(43-45)gCc>gAc	p.A15D	SYNE1_ENST00000367253.4_Missense_Mutation_p.A15D|SYNE1_ENST00000413186.2_Missense_Mutation_p.A15D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A15D|SYNE1_ENST00000466159.2_Missense_Mutation_p.A15D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A15D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A15D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A15D|SYNE1_ENST00000367248.3_Missense_Mutation_p.A15D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	15	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A15D(6)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCACATTGGCGATATCCCG	0.498000										HNSCC(10;0.0054)			33	225					5.8336e-16	1.0437e-15	0.059317	1	0
BEND4	389206	broad.mit.edu	37	4	42127651	42127651	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:42127651C>T	ENST00000502486.1	-	4	1674	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	BEND4_ENST00000504360.1_Silent_p.L361L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	365								p.L361L(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTGGTGCTGCAGAACCATCT	0.443000													5	31					0	0	0.014758	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787146	100787146	+	Splice_Site	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:100787146G>A	ENST00000323346.5	+	4	786		c.e4-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.?(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGTCCCCCAGGGTCTTTGGA	0.473000													10	70					0	0	0.058154	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921890	78921890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:78921890C>A	ENST00000261751.3	-	5	868	c.757G>T	c.(757-759)Gtc>Ttc	p.V253F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	253					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V253F(2)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGTAGAAGACGAGGATGGCC	0.552000													14	85					1.00905e-13	1.72324e-13	0.049695	1	0
OR10W1	81341	broad.mit.edu	37	11	58035114	58035114	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:58035114G>T	ENST00000395079.2	-	1	618	c.217C>A	c.(217-219)Ctg>Atg	p.L73M		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L73M(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GTGTTGGCCAGGATATGGGGC	0.507000													15	78					1.15088e-07	1.49104e-07	0.146539	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62926160	62926160	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:62926160T>A	ENST00000253401.6	-	3	1159	c.359A>T	c.(358-360)aAg>aTg	p.K120M	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K18M|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K67M|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K99M|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K118M	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	120	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.K118M(2)|p.K120M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTTGAGGTGCTTGATGTAGTG	0.537000													3	22					0	0	0.115264	0	0
OR2T6	254879	broad.mit.edu	37	1	248551067	248551067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248551067C>A	ENST00000355728.2	+	1	158	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P53H(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACATAGACCCTCATCTCCAC	0.458000													39	93					6.04917e-29	1.23328e-28	0.092188	1	0
S1PR3	1903	broad.mit.edu	37	9	91617197	91617197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:91617197C>A	ENST00000375846.3	+	1	5777	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	S1PR3_ENST00000358157.2_Nonsense_Mutation_p.S361*			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	361					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.S361*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACAGCCCCCTCATCCTGCATC	0.537000													7	32					0.00307968	0.00325283	0.038147	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885288	24885288	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:24885288G>T	ENST00000382554.3	+	9	4651	c.4333G>T	c.(4333-4335)Gcc>Tcc	p.A1445S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1445					DNA integration	integral to membrane	DNA binding	p.A1445S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGACACCCTGGCCAAGCAGGG	0.582000													10	55					9.70103e-10	1.44964e-09	0.069234	1	0
CD1D	912	broad.mit.edu	37	1	158152847	158152847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:158152847C>A	ENST00000368171.3	+	5	1286	c.787C>A	c.(787-789)Ctc>Atc	p.L263I		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	263	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.L263I(2)|p.L263F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACATGGTATCTCCGAGCAAC	0.617000													26	107					6.38683e-12	1.05644e-11	0.134883	1	0
DDX11	1663	broad.mit.edu	37	12	31249876	31249876	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:31249876G>T	ENST00000407793.2	+	17	1965	c.1714G>T	c.(1714-1716)Gct>Tct	p.A572S	DDX11_ENST00000542838.1_Missense_Mutation_p.A572S|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.A572S|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A546S|DDX11_ENST00000545668.1_Missense_Mutation_p.A572S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	572					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.A572S(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTCCTGGCAGCTCTCACTAC	0.602000										Multiple Myeloma(12;0.14)			4	30					0.00909568	0.00941797	0.009096	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136265	40136265	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:40136265G>T	ENST00000278198.2	-	2	3541	c.1578C>A	c.(1576-1578)acC>acA	p.T526T	LRRC4C_ENST00000530763.1_Silent_p.T526T|LRRC4C_ENST00000528697.1_Silent_p.T526T|LRRC4C_ENST00000527150.1_Silent_p.T526T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	526					regulation of axonogenesis	integral to membrane	protein binding	p.T526T(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGATGATTTTGGTAGTCTTCA	0.468000													12	87					4.3838e-07	5.54298e-07	0.105934	1	0
PTCHD2	57540	broad.mit.edu	37	1	11562047	11562047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:11562047G>T	ENST00000294484.6	+	2	1136	c.998G>T	c.(997-999)tGc>tTc	p.C333F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C333F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	333					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C550F(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TACTCCTACTGCTCGCCCCCC	0.622000													5	48					3.59834e-05	4.18744e-05	0.021553	1	0
SACS	26278	broad.mit.edu	37	13	23915491	23915491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:23915491C>A	ENST00000382298.3	-	10	3112	c.2524G>T	c.(2524-2526)Gac>Tac	p.D842Y	SACS_ENST00000402364.1_Missense_Mutation_p.D92Y|SACS_ENST00000382292.3_Missense_Mutation_p.D842Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.D695Y(2)|p.D842Y(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTACAATGTCTGCTAAAAAT	0.363000													28	120					2.79863e-10	4.2793e-10	0.099896	1	0
NIT1	4817	broad.mit.edu	37	1	161088936	161088936	+	Missense_Mutation	SNP	G	G	T	rs144963228	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:161088936G>T	ENST00000368008.1	+	3	170	c.111G>T	c.(109-111)atG>atT	p.M37I	NIT1_ENST00000368007.4_Missense_Mutation_p.M22I|NIT1_ENST00000392190.5_Start_Codon_SNP_p.M1I|NIT1_ENST00000368009.2_Missense_Mutation_p.M37I|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	37					nitrogen compound metabolic process	mitochondrion	nitrilase activity	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGAGCCATGGCTATCTCCT	0.517000													31	126					7.61165e-28	1.52814e-27	0.064281	1	0
ANAPC11	51529	broad.mit.edu	37	17	79857813	79857813	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:79857813G>T	ENST00000575195.2	+	2	307	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	ANAPC11_ENST00000571570.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000577425.1_3'UTR|ANAPC11_ENST00000571024.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000578550.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000583839.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000572639.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000579133.1_3'UTR|ANAPC11_ENST00000578544.1_3'UTR|ANAPC11_ENST00000571874.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000572851.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000577747.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000392376.3_Missense_Mutation_p.D43Y|ANAPC11_ENST00000579978.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000357385.3_Missense_Mutation_p.R143L|ANAPC11_ENST00000344877.5_Missense_Mutation_p.D43Y|ANAPC11_ENST00000574924.2_Missense_Mutation_p.D43Y			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	p.R143L(1)		kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCGGCGACGACTGCCCGCT	0.637000													4	29					1.23904e-05	1.46787e-05	0.014758	1	0
REG1P	5969	broad.mit.edu	37	2	79363870	79363870	+	RNA	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:79363870C>T	ENST00000444841.1	-	0	468																											GACATCAGACCCTCTGGAACC	0.433000													5	22					0	0	0.021553	0	0
SERPINI2	5276	broad.mit.edu	37	3	167164213	167164213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:167164213G>T	ENST00000476257.1	-	9	1406	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T	SERPINI2_ENST00000461846.1_Missense_Mutation_p.P370T|SERPINI2_ENST00000471111.1_Missense_Mutation_p.P370T|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P370T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	370					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P370T(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AACAGAAATGGATGATTTGCT	0.333000													18	182					3.32936e-07	4.25059e-07	0.038395	1	0
NALCN	259232	broad.mit.edu	37	13	101755531	101755531	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:101755531T>A	ENST00000251127.6	-	26	3130	c.3049A>T	c.(3049-3051)Att>Ttt	p.I1017F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1017						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I1017F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAAAAAAATTTCCTTGAAG	0.438000													22	205					0	0	0.069288	0	0
CTCF	10664	broad.mit.edu	37	16	67662413	67662413	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:67662413G>T	ENST00000264010.4	+	9	2103	c.1659G>T	c.(1657-1659)gcG>gcT	p.A553A	CTCF_ENST00000401394.1_Silent_p.A225A	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	553					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.A553A(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCGTCCCTGCGGCTTTTGTCT	0.483000													22	157					1.55469e-16	2.80058e-16	0.083992	1	0
PLGLA	285189	broad.mit.edu	37	2	107004078	107004078	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:107004078C>A	ENST00000484422.1	+	0	167																											AGAAGTCCTCCATAATCATTA	0.398000													30	269					2.70662e-09	3.88984e-09	0.144211	1	0
IRF2	3660	broad.mit.edu	37	4	185310048	185310048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:185310048C>A	ENST00000393593.3	-	9	1121	c.914G>T	c.(913-915)tGg>tTg	p.W305L		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	305					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.W305L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AAAAGGGGGCCAGGAGCTGTT	0.592000													19	120					5.35267e-07	6.73565e-07	0.043863	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342383	58342383	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:58342383C>A	ENST00000371015.1	+	5	1151	c.684C>A	c.(682-684)ctC>ctA	p.L228L	PHACTR3_ENST00000541461.1_Silent_p.L187L|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Silent_p.L225L|PHACTR3_ENST00000355648.4_Silent_p.L187L|PHACTR3_ENST00000395636.2_Silent_p.L187L|PHACTR3_ENST00000395639.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	228	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGGCCAGCTCCCCAGCCCCC	0.607000													9	38					0.000673444	0.000731883	0.069234	1	0
IL16	3603	broad.mit.edu	37	15	81592015	81592015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:81592015C>A	ENST00000394660.2	+	14	2708	c.2348C>A	c.(2347-2349)cCt>cAt	p.P783H	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.P82H|IL16_ENST00000302987.4_Missense_Mutation_p.P783H	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	783					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGAAAGGTCCTCCTGTGGCT	0.567000													7	85					0.000157383	0.000176888	0.038147	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													8	228					0	0	0.038147	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:99640640C>A	ENST00000547776.2	-	13	1758	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587Y|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167Y	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473000													35	238					1.66425e-11	2.71862e-11	0.074837	1	0
C11orf68	83638	broad.mit.edu	37	11	65685409	65685409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:65685409C>A	ENST00000438576.2	-	2	488	c.403G>T	c.(403-405)Gtg>Ttg	p.V135L	C11orf68_ENST00000449692.3_Missense_Mutation_p.V134L|C11orf68_ENST00000530188.1_Missense_Mutation_p.V93L			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	93								p.V135L(2)|p.V93L(2)		large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		AGGCCCTGCACGTCCCCGGAG	0.657000													5	51					0.000442599	0.000489091	0.058154	1	0
ANKEF1	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:10030593A>G	ENST00000378380.3	+	6	1705	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.Y459C(2)									ATTGAGACCTACAAGAATGTC	0.463000													21	155					0	0	0.049695	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342384	58342384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:58342384C>A	ENST00000371015.1	+	5	1152	c.685C>A	c.(685-687)Ccc>Acc	p.P229T	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P188T|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P226T|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P188T|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P188T|PHACTR3_ENST00000395639.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	229	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGGCCAGCTCCCCAGCCCCCC	0.607000													9	37					0.000673444	0.000731883	0.069234	1	0
PAX1	5075	broad.mit.edu	37	20	21695369	21695369	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:21695369C>A	ENST00000398485.2	+	5	1587	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	511					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.P417P(1)|p.P511P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGGCCCAGCCCTGCCTCTGGC	0.652000													5	30					0.000602214	0.000659927	0.014758	1	0
RNF150	57484	broad.mit.edu	37	4	141888839	141888839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:141888839C>A	ENST00000420921.2	-	3	338	c.250G>T	c.(250-252)Gca>Tca	p.A84S	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.A225S|RNF150_ENST00000379512.2_Missense_Mutation_p.A84S|RNF150_ENST00000515673.1_Missense_Mutation_p.A225S			Q9ULK6	RN150_HUMAN	ring finger protein 150	225	PA.					integral to membrane	zinc ion binding	p.A225S(2)|p.A134S(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACGAGCCATGCGAGGGAAATG	0.423000													19	119					1.33834e-09	1.94466e-09	0.043863	1	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038323	117038323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:117038323G>T	ENST00000527958.1	+	6	757	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000529887.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	200					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	p.G200W(2)		kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TCTGACAGGAGGGGGCTATGC	0.532000			T	IGH@	MLCLS								7	67					0.00010058	0.000115011	0.093190	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281203	49281203	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr13:49281203G>C	ENST00000282018.3	+	1	253	c.250G>C	c.(250-252)Gat>Cat	p.D84H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	84					immune response	integral to membrane|plasma membrane		p.D84H(2)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GGCCATTTCAGATCTCCTGTT	0.443000													17	139					0	0	0.146539	0	0
FAT4	79633	broad.mit.edu	37	4	126240206	126240206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:126240206C>A	ENST00000394329.3	+	1	2653	c.2640C>A	c.(2638-2640)aaC>aaA	p.N880K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	880	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N880K(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTATGGTTAACATAACAGTTA	0.448000													12	67					5.50884e-06	6.58556e-06	0.093190	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36250716	36250716	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:36250716G>T	ENST00000315571.5	+	6	828	c.807G>T	c.(805-807)gcG>gcT	p.A269A	LDLRAD3_ENST00000528989.1_Silent_p.A220A|LDLRAD3_ENST00000524419.1_Silent_p.A259A	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	269						integral to membrane	receptor activity	p.A269A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACAGGCCTGCGTGGTATGACC	0.592000													30	204					2.61193e-14	4.51933e-14	0.144211	1	0
CTCF	10664	broad.mit.edu	37	16	67663408	67663408	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:67663408C>T	ENST00000264010.4	+	10	2253	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	CTCF_ENST00000401394.1_Silent_p.R275R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	603					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R603R(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAAGATGCGCTCTAAGAAAG	0.448000													5	97					0	0	0.021553	0	0
POF1B	79983	broad.mit.edu	37	X	84606415	84606415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:84606415C>T	ENST00000262753.4	-	5	626	c.481G>A	c.(481-483)Gga>Aga	p.G161R	POF1B_ENST00000373145.3_Missense_Mutation_p.G161R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	161							actin binding	p.G161R(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACATTGTTTCCTGGGAAGAAA	0.284000													9	95					0	0	0.047766	0	0
KCNA2	3737	broad.mit.edu	37	1	111146525	111146525	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:111146525G>A	ENST00000485317.1	-	3	1553	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	KCNA2_ENST00000369770.3_Missense_Mutation_p.R294C|KCNA2_ENST00000316361.4_Missense_Mutation_p.R294C|KCNA2_ENST00000440270.1_Missense_Mutation_p.R294C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	294						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R294C(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CGGATGACACGGAGGATGGCC	0.537000													11	140					0	0	0.033300	0	0
UTP18	51096	broad.mit.edu	37	17	49357467	49357467	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:49357467G>T	ENST00000225298.7	+	8	1170		c.e8+1			NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)						rRNA processing	nucleolus		p.?(2)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AGCAATGAAGGTAAAGCATTA	0.413000													5	53					0.00116845	0.00125429	0.021553	1	0
GLIPR2	152007	broad.mit.edu	37	9	36162380	36162380	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:36162380G>T	ENST00000377960.4	+	5	360	c.326G>T	c.(325-327)tGg>tTg	p.W109L	GLIPR2_ENST00000377959.1_Missense_Mutation_p.W83L|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	109				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane		p.W109L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GCCATGGTATGGAAGAACACC	0.567000													21	121					1.50039e-11	2.46627e-11	0.062417	1	0
RBMS2	5939	broad.mit.edu	37	12	56963712	56963712	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:56963712T>C	ENST00000262031.5	+	4	417	c.322T>C	c.(322-324)Tca>Cca	p.S108P	RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.S108P|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	108	RRM 1.				RNA processing	nucleus	nucleotide binding|RNA binding	p.S108P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGACAGCCCTTCAGCAGCACA	0.512000													18	115					0	0	0.038395	0	0
PRLR	5618	broad.mit.edu	37	5	35072726	35072726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:35072726G>T	ENST00000382002.5	-	6	920	c.494C>A	c.(493-495)aCg>aAg	p.T165K	PRLR_ENST00000342362.5_Missense_Mutation_p.T64K|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.T165K|PRLR_ENST00000397391.3_Missense_Mutation_p.T94K|PRLR_ENST00000511486.1_Missense_Mutation_p.T64K|PRLR_ENST00000348262.3_Missense_Mutation_p.T165K|PRLR_ENST00000310101.5_Missense_Mutation_p.T165K|PRLR_ENST00000231423.3_Missense_Mutation_p.T165K|PRLR_ENST00000542609.1_Missense_Mutation_p.T165K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	165	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T165K(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATACAGGAGCGTGAACCAACC	0.448000													19	168					2.39187e-15	4.2219e-15	0.049695	1	0
DPP6	1804	broad.mit.edu	37	7	154379590	154379590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:154379590G>T	ENST00000406326.1	+	6	1261	c.858G>T	c.(856-858)tgG>tgT	p.W286C	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.W286C(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATATTCCATGGAGACCCTGGC	0.577000													14	97					4.7546e-09	6.75925e-09	0.146539	1	0
DNAH9	1770	broad.mit.edu	37	17	11656186	11656186	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:11656186T>A	ENST00000262442.3	+	33	6715	c.6647T>A	c.(6646-6648)aTc>aAc	p.I2216N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2216N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2216	AAA 2 (By similarity).			I -> T (in Ref. 4; BAA21573).	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2216N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTGCCAACATCACCCATGAT	0.413000													18	99					0	0	0.062417	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304740	102304740	+	RNA	SNP	G	G	A	rs7169420	by1000genomes	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:102304740G>A	ENST00000561463.1	+	0	12786																											GAAGACACTCGTGGAGGAGTC	0.612000													4	14					0	0	0.029380	0	0
MGA	23269	broad.mit.edu	37	15	42042472	42042472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:42042472G>T	ENST00000219905.7	+	17	6848	c.6667G>T	c.(6667-6669)Gac>Tac	p.D2223Y	MGA_ENST00000545763.1_Missense_Mutation_p.D2014Y|MGA_ENST00000389936.4_Missense_Mutation_p.D2184Y|MGA_ENST00000566586.1_Missense_Mutation_p.D2014Y|MGA_ENST00000570161.1_Missense_Mutation_p.D2223Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2184						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.D2272Y(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGCATCTCTGACTTACTTGG	0.378000													24	170					6.21321e-17	1.14271e-16	0.076483	1	0
TMEM132B	114795	broad.mit.edu	37	12	126137133	126137133	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:126137133C>A	ENST00000299308.3	+	8	2054	c.2046C>A	c.(2044-2046)atC>atA	p.I682I	TMEM132B_ENST00000535886.1_Silent_p.I194I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	682						integral to membrane		p.I682I(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGGGCCATCGTCTCCACAG	0.607000													17	63					1.2644e-06	1.55392e-06	0.055883	1	0
LTBP1	4052	broad.mit.edu	37	2	33488394	33488394	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:33488394T>A	ENST00000404816.2	+	15	2905	c.2552T>A	c.(2551-2553)gTt>gAt	p.V851D	LTBP1_ENST00000390003.4_Missense_Mutation_p.V526D|LTBP1_ENST00000404525.1_Missense_Mutation_p.V472D|LTBP1_ENST00000418533.2_Missense_Mutation_p.V525D|LTBP1_ENST00000402934.1_Missense_Mutation_p.V472D|LTBP1_ENST00000407925.1_Missense_Mutation_p.V525D|LTBP1_ENST00000354476.3_Missense_Mutation_p.V852D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	851					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.V852D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTGTGCCTGTTGAAGTAGCT	0.403000													27	203					0	0	0.045705	0	0
OR4P4	81300	broad.mit.edu	37	11	55406314	55406314	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:55406314A>G	ENST00000314612.2	+	1	481	c.481A>G	c.(481-483)Acc>Gcc	p.T161A		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T161A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTTTCTTCTCACCATCTTTGT	0.393000													20	176					0	0	0.049695	0	0
RASA1	5921	broad.mit.edu	37	5	86672763	86672763	+	Silent	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:86672763A>T	ENST00000456692.2	+	17	1834	c.1719A>T	c.(1717-1719)acA>acT	p.T573T	RASA1_ENST00000512763.1_Silent_p.T583T|RASA1_ENST00000506290.1_Silent_p.T584T|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000274376.6_Silent_p.T750T	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	750	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.T750T(2)|p.T573T(2)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGACCGAACACTACTGGCCA	0.368000													22	137					0	0	0.076483	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519214	137519214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:137519214G>A	ENST00000367739.4	-	7	1545	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	IFNGR1_ENST00000543628.1_Missense_Mutation_p.S447F	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	475					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	p.S475F(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACCAATCAAGGACTCTTTACC	0.413000													17	173					0	0	0.033300	0	0
IGHG3	3502	broad.mit.edu	37	14	106235600	106235600	+	RNA	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:106235600T>A	ENST00000390551.2	-	0	1106																											AGGGAGAGGCTCTTCTGCGTG	0.632000													6	57					0	0	0.069234	0	0
OR6F1	343169	broad.mit.edu	37	1	247875730	247875730	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:247875730T>A	ENST00000302084.2	-	1	375	c.328A>T	c.(328-330)Aca>Tca	p.T110S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110S(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGTACTCTGTGCAGCCTAAT	0.498000													26	77					0	0	0.091800	0	0
MC5R	4161	broad.mit.edu	37	18	13826463	13826463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr18:13826463C>A	ENST00000324750.3	+	1	921	c.699C>A	c.(697-699)agC>agA	p.S233R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	233				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.S233R(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGAGGACCAGCATGCAGGGCG	0.612000													40	181					2.52637e-11	4.10146e-11	0.080422	1	0
FZD3	7976	broad.mit.edu	37	8	28385432	28385432	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:28385432T>A	ENST00000240093.3	+	5	1633	c.1155T>A	c.(1153-1155)gtT>gtA	p.V385V	FZD3_ENST00000537916.1_Silent_p.V385V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	385					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.V385V(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGTGGTAGTTGGGGTTTCTC	0.398000													31	168					0	0	0.050027	0	0
SMG1	23049	broad.mit.edu	37	16	18881188	18881188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:18881188G>C	ENST00000446231.2	-	19	3033	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	SMG1_ENST00000389467.3_Missense_Mutation_p.S874C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	874	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S870C(2)|p.S874C(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTCTATGAGAGTTCCCATA	0.318000													6	41					0	0	0.038147	0	0
PDE7A	5150	broad.mit.edu	37	8	66635829	66635829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:66635829C>A	ENST00000401827.3	-	12	1633	c.1190G>T	c.(1189-1191)gGt>gTt	p.G397V	PDE7A_ENST00000396642.3_Missense_Mutation_p.G397V|PDE7A_ENST00000379419.4_Missense_Mutation_p.G371V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	397	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.G371V(1)|p.G397V(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	TGGACTCACACCCAAATGATA	0.294000													6	70					0.00307968	0.00325283	0.038147	1	0
RALA	5898	broad.mit.edu	37	7	39730128	39730128	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:39730128G>T	ENST00000005257.2	+	3	642	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	88					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	p.G88W(2)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AAGTGGGGAGGGGTTCCTCTG	0.458000													16	85					1.15088e-07	1.49104e-07	0.146539	1	0
LCN2	3934	broad.mit.edu	37	9	130911883	130911883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:130911883C>A	ENST00000540948.1	+	1	152	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	LCN2_ENST00000373017.1_Missense_Mutation_p.L27M|LCN2_ENST00000372998.1_Missense_Mutation_p.L27M|LCN2_ENST00000373013.2_Missense_Mutation_p.L27M|LCN2_ENST00000277480.2_Missense_Mutation_p.L27M|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.L27M(2)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CACCTCAGACCTGATCCCAGC	0.642000													27	75					1.04121e-07	1.39714e-07	0.108266	1	0
NOTCH4	4855	broad.mit.edu	37	6	32187987	32187987	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:32187987G>A	ENST00000375023.3	-	7	1372	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	412	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L412F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCCTGTGAGGGGGTTGGTG	0.627000													5	62					0	0	0.058154	0	0
SNX18	112574	broad.mit.edu	37	5	53814755	53814755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:53814755G>T	ENST00000343017.6	+	1	1167	c.973G>T	c.(973-975)Gag>Tag	p.E325*	SNX18_ENST00000381410.4_Nonsense_Mutation_p.E325*|SNX18_ENST00000326277.3_Nonsense_Mutation_p.E325*	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	325	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.E325*(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCGCCTGGCGGAGAAGTTCCC	0.632000													7	32					0.0381472	0.0388865	0.038147	1	0
ANKRD55	79722	broad.mit.edu	37	5	55439661	55439661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:55439661T>A	ENST00000341048.4	-	7	730	c.579A>T	c.(577-579)aaA>aaT	p.K193N	ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000513241.2_Missense_Mutation_p.K164N|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	192								p.K193N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTTTAAAGTCTTTATCCACAA	0.502000													50	301					0	0	0.139131	0	0
WNT7B	7477	broad.mit.edu	37	22	46319087	46319087	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:46319087G>C	ENST00000339464.4	-	4	1073	c.699C>G	c.(697-699)aaC>aaG	p.N233K	WNT7B_ENST00000410089.1_Missense_Mutation_p.N217K|WNT7B_ENST00000409496.3_Missense_Mutation_p.N237K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	233					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.N233K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GCACGGCCGCGTTGTACTTCT	0.642000													4	28					0	0	0.058154	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	35					0	0	0.021553	0	0
CNTRL	11064	broad.mit.edu	37	9	123920082	123920082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:123920082G>T	ENST00000373855.1	+	29	4821	c.4561G>T	c.(4561-4563)Gaa>Taa	p.E1521*	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.E1521*|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.E969*			Q7Z7A1	CNTRL_HUMAN	centriolin	1521					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.E1521*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AATCTTGAAAGAAATAAACAA	0.408000													21	112					1.01871e-10	1.59477e-10	0.049695	1	0
NLRP8	126205	broad.mit.edu	37	19	56467169	56467169	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:56467169G>T	ENST00000291971.3	+	3	1816	c.1745G>T	c.(1744-1746)gGt>gTt	p.G582V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G582V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	582						cytoplasm	ATP binding	p.G582V(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTCTTTCGGTAATAAGAGG	0.478000													12	44					1.08611e-07	1.42113e-07	0.080935	1	0
OR2T2	401992	broad.mit.edu	37	1	248616371	248616371	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248616371G>T	ENST00000342927.3	+	1	295	c.273G>T	c.(271-273)aaG>aaT	p.K91N		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K91N(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAAGGACAAGACCATTTCCT	0.522000													47	301					1.38814e-16	2.51779e-16	0.139131	1	0
PAPLN	89932	broad.mit.edu	37	14	73725989	73725989	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:73725989A>G	ENST00000427855.1	+	16	1823	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	PAPLN_ENST00000381166.3_Missense_Mutation_p.Q574R|PAPLN_ENST00000555445.1_Missense_Mutation_p.Q574R|PAPLN_ENST00000340738.5_Missense_Mutation_p.Q547R|PAPLN_ENST00000554301.1_Missense_Mutation_p.Q574R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	574						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.Q547R(2)|p.Q574R(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCAGAGGCCAGTGGTGGGCA	0.647000													7	143					0	0	0.069234	0	0
CSN2	1447	broad.mit.edu	37	4	70823356	70823356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:70823356G>C	ENST00000353151.3	-	5	322	c.311C>G	c.(310-312)gCt>gGt	p.A104G		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	104					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	p.A104G(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGTGTCTTTAGCTTTAGGGAC	0.463000													16	123					0	0	0.043863	0	0
ZIC3	7547	broad.mit.edu	37	X	136649500	136649500	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:136649500C>G	ENST00000287538.5	+	1	1200	c.650C>G	c.(649-651)cCt>cGt	p.P217R	ZIC3_ENST00000370606.3_Missense_Mutation_p.P217R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	217			P -> A (in a patient with atrial septal defect and pulmonic stenosis not associated with heterotaxy; lacks DNA- binding; does not inhibit transcriptional activation and interaction with GLI3).		cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P217R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTTCCTAACTACAGC	0.662000													6	55					0	0	0.029380	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132563	91132563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:91132563G>T	ENST00000373094.1	+	2	2169	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	PCDH11X_ENST00000373097.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G442C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G442C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	442	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.G442C(6)|p.G442R(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGATGCTGGCAAACCTCC	0.408000													23	95					8.16721e-17	1.49165e-16	0.045705	1	0
OR6K6	128371	broad.mit.edu	37	1	158724748	158724748	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:158724748C>A	ENST00000368144.2	+	1	239	c.143C>A	c.(142-144)gCg>gAg	p.A48E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A48E(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTCCCGCATGCGCACAGAGGT	0.453000													33	277					9.17885e-22	1.76207e-21	0.059317	1	0
TAF4	6874	broad.mit.edu	37	20	60575248	60575248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:60575248G>A	ENST00000252996.3	-	11	2718	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	907					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.Q907*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGCCTTTGTTGCGTGGCATGT	0.373000													19	113					0	0	0.049695	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985602	142985602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:142985602C>A	ENST00000316549.6	-	16	2088	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G627V(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCCTCCCAGGCCGAGGTCTCC	0.498000													25	127					9.04412e-07	1.11672e-06	0.099896	1	0
FCRL1	115350	broad.mit.edu	37	1	157771827	157771827	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:157771827G>A	ENST00000358292.3	-	5	815	c.764C>T	c.(763-765)cCc>cTc	p.P255L	FCRL1_ENST00000491942.1_Missense_Mutation_p.P255L|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.P255L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	255	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.P255L(4)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTCCAGAGGGGGCCGACCT	0.582000													33	99					0	0	0.050027	0	0
SCN3B	55800	broad.mit.edu	37	11	123508905	123508905	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:123508905G>T	ENST00000392770.2	-	4	1375	c.573C>A	c.(571-573)gcC>gcA	p.A191A	SCN3B_ENST00000299333.3_Silent_p.A191A|SCN3B_ENST00000530277.1_Silent_p.A191A	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	191					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.A191A(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CGTTTTCTTGGGCTGCCTCTT	0.448000													10	40					2.17888e-05	2.55824e-05	0.058154	1	0
INHBC	3626	broad.mit.edu	37	12	57843212	57843212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:57843212G>T	ENST00000309668.2	+	2	593	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C	INHBC_ENST00000550133.1_Missense_Mutation_p.G156C	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	156					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.G156C(2)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTTGTGCTGGGTCCACATAA	0.552000													34	162					3.21399e-22	6.26134e-22	0.074837	1	0
GALNT13	114805	broad.mit.edu	37	2	155306968	155306968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:155306968C>A	ENST00000392825.3	+	13	2143	c.1576C>A	c.(1576-1578)Cct>Act	p.P526T	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	526	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P526T(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTCGATGAACCTTCTGAAGA	0.438000													15	99					9.16793e-09	1.28253e-08	0.033300	1	0
SLC26A9	115019	broad.mit.edu	37	1	205897047	205897047	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:205897047C>T	ENST00000367135.3	-	9	1197	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	SLC26A9_ENST00000367134.2_Missense_Mutation_p.D362N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.D362N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	362						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.D362N(4)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAATCCACGTCGTAGCCGTGC	0.587000													13	108					0	0	0.146539	0	0
BRWD3	254065	broad.mit.edu	37	X	79978240	79978240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:79978240C>A	ENST00000373275.4	-	17	1913	c.1697G>T	c.(1696-1698)cGt>cTt	p.R566L		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	566								p.R566L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTGGCATCACGAATAAGAGG	0.393000													15	134					0.00316338	0.00332787	0.132662	1	0
NUP210	23225	broad.mit.edu	37	3	13427851	13427851	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:13427851C>A	ENST00000254508.5	-	6	823	c.741G>T	c.(739-741)ccG>ccT	p.P247P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	247					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P247P(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGTCATAGGCCGGGTTCAGAA	0.493000													25	157					3.7963e-18	7.03118e-18	0.083992	1	0
POLR3B	55703	broad.mit.edu	37	12	106821053	106821053	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:106821053A>T	ENST00000228347.4	+	13	1402	c.1180A>T	c.(1180-1182)Aag>Tag	p.K394*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.K336*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	394					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.K394*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGATTCCTAAGCAAAGAGC	0.363000													9	103					0	0	0.047766	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204375279	204375279	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:204375279T>C	ENST00000367188.4	-	2	2462	c.2083A>G	c.(2083-2085)Atg>Gtg	p.M695V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	695					regulation of translation			p.M695V(2)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTATTAAACATTCTTTCTCTG	0.403000													69	176					0	0	0.139131	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028081	44028081	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:44028081C>T	ENST00000262726.7	-	19	2389	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	EFCAB6_ENST00000396231.2_Silent_p.Q560Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.Q712Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGTTGGAGGCTGCGGCGGAG	0.483000													13	100					0	0	0.093190	0	0
ZNF251	90987	broad.mit.edu	37	8	145948533	145948533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:145948533C>A	ENST00000292562.7	-	5	787	c.512G>T	c.(511-513)gGc>gTc	p.G171V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G128V(2)|p.G171V(2)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTTTCCCTGCCCACGGTAGC	0.433000													31	172					3.86903e-22	7.48202e-22	0.054565	1	0
PCBP2	5094	broad.mit.edu	37	12	53853102	53853102	+	Missense_Mutation	SNP	C	C	T	rs111807426		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:53853102C>T	ENST00000603815.1	+	6	640	c.290C>T	c.(289-291)cCg>cTg	p.P97L	PCBP2_ENST00000439930.3_Missense_Mutation_p.P97L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000549863.1_Missense_Mutation_p.P97L|PCBP2_ENST00000455667.3_Missense_Mutation_p.P97L|PCBP2_ENST00000541275.1_Missense_Mutation_p.P97L|PCBP2_ENST00000546463.1_Missense_Mutation_p.P97L|PCBP2_ENST00000548933.1_Missense_Mutation_p.P97L|PCBP2_ENST00000359282.5_Missense_Mutation_p.P97L|PCBP2_ENST00000359462.5_Missense_Mutation_p.P97L|PCBP2_ENST00000437231.1_Missense_Mutation_p.P97L|PCBP2_ENST00000552819.1_Missense_Mutation_p.P97L|PCBP2_ENST00000447282.1_Missense_Mutation_p.P97L|PCBP2_ENST00000552296.2_Missense_Mutation_p.P97L	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	97	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.P97L(2)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGTAGACCCCCGGTCACCCTG	0.488000													13	95					0	0	0.055883	0	0
CSF1R	1436	broad.mit.edu	37	5	149449602	149449602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:149449602C>A	ENST00000286301.3	-	10	1635	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	448	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Q448H(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATCCCAGACCTGCAGCACTT	0.587000													12	69					1.05317e-09	1.55609e-09	0.119110	1	0
CASR	846	broad.mit.edu	37	3	122002991	122002991	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:122002991C>A	ENST00000498619.1	+	7	2658	c.2220C>A	c.(2218-2220)ctC>ctA	p.L740L	CASR_ENST00000490131.1_Silent_p.L730L|CASR_ENST00000296154.5_Silent_p.L730L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	730					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L730L(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTTTTCCTCTGCACCTTCA	0.557000													8	61					0.00307968	0.00325283	0.038147	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690667	77690667	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:77690667A>T	ENST00000521891.2	+	4	3765	c.3317A>T	c.(3316-3318)aAt>aTt	p.N1106I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N1080I|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N1080I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N1080I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1080						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1106I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCACCAAATGAGCTTGGT	0.532000										HNSCC(33;0.089)			17	121					0	0	0.146539	0	0
UNC5D	137970	broad.mit.edu	37	8	35608274	35608274	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:35608274C>G	ENST00000287272.2	+	12	1923	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	UNC5D_ENST00000449677.1_Missense_Mutation_p.L280V|UNC5D_ENST00000404895.2_Missense_Mutation_p.L704V|UNC5D_ENST00000416672.1_Missense_Mutation_p.L709V|UNC5D_ENST00000453357.2_Missense_Mutation_p.L699V|UNC5D_ENST00000420357.1_Missense_Mutation_p.L637V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	704	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.L699V(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGTAACTCCCTGGATTACAA	0.458000													41	228					0	0	0.117977	0	0
SOD2	6648	broad.mit.edu	37	6	160103667	160103667	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:160103667A>C	ENST00000538183.1	-	5	687	c.527T>G	c.(526-528)cTt>cGt	p.L176R	SOD2_ENST00000337404.4_Missense_Mutation_p.L137R|SOD2_ENST00000367054.2_Missense_Mutation_p.L137R|SOD2_ENST00000546087.1_Missense_Mutation_p.L130R|SOD2_ENST00000444946.2_Missense_Mutation_p.L116R|SOD2_ENST00000367055.4_Missense_Mutation_p.L176R	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	176					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	p.L176R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CAGTGGAATAAGGCCTGTTAG	0.368000													5	62					0	0	0.014758	0	0
HTR2C	3358	broad.mit.edu	37	X	114141816	114141816	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:114141816T>A	ENST00000276198.1	+	6	1943	c.1215T>A	c.(1213-1215)gcT>gcA	p.A405A	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.A405A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	405					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.A405A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCGCCACTGCTTTGTCTGGGA	0.453000													25	156					0	0	0.144211	0	0
CUL9	23113	broad.mit.edu	37	6	43152465	43152465	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:43152465G>A	ENST00000252050.4	+	2	501	c.417G>A	c.(415-417)acG>acA	p.T139T	CUL9_ENST00000372647.2_Silent_p.T139T|CUL9_ENST00000354495.3_Silent_p.T139T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	139					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.T139T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCCTCACGGCCGCTGTGC	0.637000													4	61					0	0	0.105934	0	0
LAIR2	3904	broad.mit.edu	37	19	55014926	55014926	+	Silent	SNP	G	G	T	rs151276812		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:55014926G>T	ENST00000301202.2	+	2	167	c.45G>T	c.(43-45)ctG>ctT	p.L15L	LAIR2_ENST00000351841.2_Silent_p.L15L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	15						extracellular region	receptor activity	p.L15L(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TGCTCTGCCTGGCCCAGACCA	0.607000													5	73					0.0215528	0.0221421	0.021553	1	0
IRAK4	51135	broad.mit.edu	37	12	44180315	44180315	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:44180315T>C	ENST00000431837.1	+	10	1238	c.930T>C	c.(928-930)agT>agC	p.S310S	IRAK4_ENST00000448290.2_Silent_p.S434S|IRAK4_ENST00000551736.1_Silent_p.S434S|IRAK4_ENST00000440781.2_Silent_p.S310S	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	434	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S434S(2)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTGTTGCTAGTCAATGTCTGC	0.308000													18	176					0	0	0.055883	0	0
PAK7	57144	broad.mit.edu	37	20	9561009	9561009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:9561009C>A	ENST00000378429.3	-	5	1319	c.773G>T	c.(772-774)gGa>gTa	p.G258V	PAK7_ENST00000353224.5_Missense_Mutation_p.G258V|PAK7_ENST00000378423.1_Missense_Mutation_p.G258V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	258	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G258V(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGGCTGGGTCCCCATTCACT	0.562000													10	106					0.00829132	0.00861904	0.069234	1	0
SERPINA12	145264	broad.mit.edu	37	14	94964180	94964180	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:94964180G>T	ENST00000341228.2	-	3	1350	c.555C>A	c.(553-555)acC>acA	p.T185T	SERPINA12_ENST00000556881.1_Silent_p.T185T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	185					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T185T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCCCATGGGTTTTTTGAC	0.398000													30	183					1.08312e-15	1.92473e-15	0.144211	1	0
ARPP21	10777	broad.mit.edu	37	3	35835224	35835224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:35835224C>A	ENST00000187397.4	+	20	2669	c.2213C>A	c.(2212-2214)cCc>cAc	p.P738H	ARPP21_ENST00000444190.1_Missense_Mutation_p.P719H|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.P739H|ARPP21_ENST00000337271.5_Missense_Mutation_p.P719H|ARPP21_ENST00000417925.1_Missense_Mutation_p.P739H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	738	Gln-rich.					cytoplasm	nucleic acid binding	p.P738H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAAGGACTGCCCCAGCAGTCA	0.488000													9	67					1.12685e-05	1.341e-05	0.047766	1	0
PHF20L1	51105	broad.mit.edu	37	8	133823374	133823374	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:133823374G>T	ENST00000395374.1	+	3	702	c.448G>T	c.(448-450)Gta>Tta	p.V150L	PHF20L1_ENST00000395390.2_Splice_Site|PHF20L1_ENST00000395379.1_Missense_Mutation_p.V311L|PHF20L1_ENST00000315808.10_Splice_Site|PHF20L1_ENST00000395382.3_Splice_Site|PHF20L1_ENST00000395383.1_Splice_Site|PHF20L1_ENST00000395386.2_Splice_Site|PHF20L1_ENST00000395376.1_Missense_Mutation_p.V316L|PHF20L1_ENST00000220847.7_Splice_Site|PHF20L1_ENST00000337920.4_Missense_Mutation_p.V285L			A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	0							nucleic acid binding|zinc ion binding	p.?(4)|p.V285L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCTGGAGCAGGTATGAAATGG	0.403000													14	105					4.3838e-07	5.54298e-07	0.105934	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409316	56409316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:56409316G>T	ENST00000544374.1	-	1	631	c.603C>A	c.(601-603)ttC>ttA	p.F201L	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F200L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200L(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CAATGCCATTGAAGTGGGTAT	0.423000													30	192					4.62619e-21	8.81658e-21	0.069456	1	0
GABRR1	2569	broad.mit.edu	37	6	89891759	89891759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:89891759A>T	ENST00000435811.1	-	7	1217	c.763T>A	c.(763-765)Tac>Aac	p.Y255N	GABRR1_ENST00000369451.3_Missense_Mutation_p.Y185N|GABRR1_ENST00000454853.2_Missense_Mutation_p.Y272N	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y266N(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AAATTAATGTAGAGACGGTTG	0.448000													8	85					0	0	0.058154	0	0
RIPK1	8737	broad.mit.edu	37	6	3105762	3105762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:3105762G>T	ENST00000259808.4	+	9	1351	c.1053G>T	c.(1051-1053)atG>atT	p.M351I	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.M351I|RIPK1_ENST00000541791.1_Missense_Mutation_p.M305I			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	351	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.M351I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GACTTGGGATGGGTCCTGTGG	0.493000													37	306					2.04263e-09	2.95172e-09	0.069456	1	0
TRPM1	4308	broad.mit.edu	37	15	31362381	31362381	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:31362381A>T	ENST00000542188.1	-	3	496	c.183T>A	c.(181-183)agT>agA	p.S61R	TRPM1_ENST00000559179.1_Missense_Mutation_p.S22R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S22R|TRPM1_ENST00000256552.6_Missense_Mutation_p.S44R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	22					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S22R(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGGTGTTGCACTTGGCAGAG	0.512000													54	455					0	0	0.139131	0	0
FMN2	56776	broad.mit.edu	37	1	240370817	240370817	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:240370817T>G	ENST00000319653.9	+	5	2935	c.2705T>G	c.(2704-2706)cTg>cGg	p.L902R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	902	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.L1045R(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCTCTGCAGGGTACA	0.662000													13	103					0	0	0.069288	0	0
OR2T6	254879	broad.mit.edu	37	1	248551409	248551409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248551409C>A	ENST00000355728.2	+	1	500	c.500C>A	c.(499-501)cCg>cAg	p.P167Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167Q(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGTCTCCCGTTCTGTGCC	0.537000													12	46					1.08611e-07	1.42113e-07	0.080935	1	0
SLC17A8	246213	broad.mit.edu	37	12	100787197	100787197	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:100787197C>T	ENST00000323346.5	+	4	837	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P175L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	175					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.P175L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGTTTATTCCCTCTGCAGCC	0.463000													7	102					0	0	0.069234	0	0
CRHR2	1395	broad.mit.edu	37	7	30693085	30693085	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:30693085G>A	ENST00000471646.1	-	12	1644	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	CRHR2_ENST00000348438.4_Silent_p.A436A|CRHR2_ENST00000341843.4_Silent_p.A395A|CRHR2_ENST00000506074.2_3'UTR	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	409					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A409A(2)|p.A395A(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCACACAGCGGCCGTCTGCT	0.642000													22	117					0	0	0.083992	0	0
CFTR	1080	broad.mit.edu	37	7	117232483	117232483	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:117232483G>A	ENST00000003084.6	+	14	2394	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V	CFTR_ENST00000454343.1_Silent_p.V693V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	754			V -> M (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.V754V(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCATCAGCGTGATCAGCACTG	0.517000									Cystic Fibrosis				8	34					0	0	0.038147	0	0
JADE3	9767	broad.mit.edu	37	X	46918161	46918161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:46918161G>T	ENST00000218343.4	+	11	2452	c.2154G>T	c.(2152-2154)gaG>gaT	p.E718D	PHF16_ENST00000397189.1_Missense_Mutation_p.E718D	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		718					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.E718D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCTTTAAAGAGACCACCAATA	0.498000													10	57					0.000442599	0.000489091	0.058154	1	0
SNHG14	104472715	broad.mit.edu	37	15	25486828	25486828	+	RNA	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:25486828C>A	ENST00000453082.2	+	0	2147					NR_003343.1																						GTCTTCTGCACTAAGCTGTGG	0.542000													16	85					6.72482e-11	1.06544e-10	0.132662	1	0
BRINP3	339479	broad.mit.edu	37	1	190423996	190423996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:190423996C>A	ENST00000367462.3	-	2	256	c.25G>T	c.(25-27)Gct>Tct	p.A9S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		9						extracellular region		p.A9S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACAATTCAGCACCAGCTCTG	0.478000													17	53					8.10497e-08	1.09313e-07	0.055883	1	0
OR2A5	393046	broad.mit.edu	37	7	143748277	143748277	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:143748277C>A	ENST00000408906.2	+	1	817	c.783C>A	c.(781-783)gcC>gcA	p.A261A		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261A(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTACATGGCCCCCAAGTCCC	0.572000													14	127					7.07596e-05	8.19814e-05	0.038395	1	0
ATP1A2	477	broad.mit.edu	37	1	160093040	160093040	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:160093040G>T	ENST00000361216.3	+	4	304	c.215G>T	c.(214-216)cGa>cTa	p.R72L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R72L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	72					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R72L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTGGCTCGAGATGGGCCC	0.642000													15	122					3.41278e-10	5.18822e-10	0.033300	1	0
SNRNP200	23020	broad.mit.edu	37	2	96954407	96954407	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:96954407G>A	ENST00000323853.5	-	24	3329	c.3252C>T	c.(3250-3252)gtC>gtT	p.V1084V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1084	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.V1084V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCACCTGTGTGACATACACCA	0.517000													12	83					0	0	0.105934	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826167	83826167	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:83826167C>A	ENST00000299633.4	-	4	1062	c.459_splice	c.e4+1	p.K153_splice		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		153					cell proliferation	nucleus	growth factor activity	p.K153N(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTTAGTAACCTTTGAAGTAT	0.308000													10	90					0.00010058	0.000115011	0.093190	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538888	27538888	+	RNA	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:27538888G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGCAGTCTGTGGATGCTCA	0.498000													22	143					0	0	0.076483	0	0
NETO1	81832	broad.mit.edu	37	18	70417550	70417550	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr18:70417550C>G	ENST00000327305.6	-	9	1945	c.1288G>C	c.(1288-1290)Gac>Cac	p.D430H	NETO1_ENST00000299430.2_Missense_Mutation_p.D429H|NETO1_ENST00000583169.1_Missense_Mutation_p.D430H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	430					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.D430H(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGTGATGGTCATGAATGCAT	0.493000													13	61					0	0	0.093190	0	0
PLXNB1	5364	broad.mit.edu	37	3	48457786	48457786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:48457786C>A	ENST00000358536.4	-	17	3718	c.3449G>T	c.(3448-3450)cGt>cTt	p.R1150L	PLXNB1_ENST00000456774.1_Missense_Mutation_p.R967L|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R967L|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1150L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1150	IPT/TIG 1.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.R1150L(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGAGACACCACGTCCTCTTCC	0.667000													12	60					1.5842e-08	2.20447e-08	0.105934	1	0
POLQ	10721	broad.mit.edu	37	3	121207151	121207151	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:121207151C>G	ENST00000264233.5	-	16	4755	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1543					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.D1678H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGTGGGTATCTTGATTCTCA	0.338000								DNA polymerases (catalytic subunits)					5	130					0	0	0.014758	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475536	157475536	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:157475536C>A	ENST00000389413.3	-	12	1898	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	PTPRN2_ENST00000409483.1_Missense_Mutation_p.G590C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G611C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G628C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G651C	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	628						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G628C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGACGCCCAGGATGCAG	0.607000													8	87					0.000442599	0.000489091	0.058154	1	0
TNRC6A	27327	broad.mit.edu	37	16	24834793	24834793	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:24834793A>T	ENST00000395799.3	+	25	5683	c.5554A>T	c.(5554-5556)Agt>Tgt	p.S1852C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1803C|TNRC6A_ENST00000432286.2_Missense_Mutation_p.S330C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1852	RRM.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.S1852C(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGAGTTTGCCAGTGAAGAGGA	0.577000													30	165					0	0	0.050027	0	0
MUC16	94025	broad.mit.edu	37	19	9061615	9061615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:9061615G>T	ENST00000397910.4	-	3	26034	c.25831C>A	c.(25831-25833)Cct>Act	p.P8611T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8613	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8611T(4)|p.P4244T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTTCAGGTTCTGAGCTT	0.483000													11	82					0.000978159	0.00105867	0.080935	1	0
NDST2	8509	broad.mit.edu	37	10	75567627	75567627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr10:75567627C>A	ENST00000299641.4	-	4	1121	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	NDST2_ENST00000309979.6_Missense_Mutation_p.A174S	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	174	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.A174S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGCTCGTGGGCTCGGAAAAAG	0.552000													7	69					8.12818e-05	9.37593e-05	0.029380	1	0
MKRN3	7681	broad.mit.edu	37	15	23811566	23811566	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:23811566C>G	ENST00000314520.3	+	1	1113	c.637C>G	c.(637-639)Cgg>Ggg	p.R213G	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	213						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R213G(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCAGCCCTACCGGGGCCGCTG	0.587000													5	33					0	0	0.021553	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740865	135740865	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:135740865G>T	ENST00000392915.1	-	9	3429	c.3310C>A	c.(3310-3312)Cag>Aag	p.Q1104K	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392917.3_Intron					mitogen-activated protein kinase kinase kinase 19																		ATATTCAGCTGTTgaaggaag	0.408000													21	134					3.62473e-10	5.47876e-10	0.062417	1	0
KIF9	64147	broad.mit.edu	37	3	47288896	47288896	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:47288896C>T	ENST00000335044.2	-	12	1557	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	KIF9_ENST00000444589.2_Silent_p.R400R|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.R400R|KIF9_ENST00000352910.4_Silent_p.R307R|KIF9_ENST00000452770.2_Silent_p.R400R	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	400					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R400R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGTACCTCCGCACCTGGG	0.557000													14	121					0	0	0.132662	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034546	95034546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:95034546G>T	ENST00000557004.1	+	4	1425	c.1004G>T	c.(1003-1005)aGg>aTg	p.R335M	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R335M|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R335M			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	335					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R335M(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATTTTGCCCAGGCTGGGCTTC	0.458000													45	191					4.44401e-20	8.34839e-20	0.117977	1	0
OR4A47	403253	broad.mit.edu	37	11	48510590	48510590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:48510590C>A	ENST00000446524.1	+	1	322	c.246C>A	c.(244-246)ggC>ggA	p.G82G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	82			G -> D (in dbSNP:rs12805819).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G82G(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGATTTCAGGCTTGTTCTTTG	0.428000													27	178					7.26314e-15	1.27347e-14	0.125774	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:125298619G>C	ENST00000538699.1	-	2	1369	c.1289C>G	c.(1288-1290)gCg>gGg	p.A430G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A430G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602000													27	160					0	0	0.125774	0	0
SNX9	51429	broad.mit.edu	37	6	158317937	158317937	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:158317937G>C	ENST00000392185.3	+	5	550	c.379G>C	c.(379-381)Gcc>Ccc	p.A127P		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	127					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.A127P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGGCTGGGGGGCCCAGCCAGA	0.587000													21	185					0	0	0.091800	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													15	706	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6742-6747)caccccfs	p.HP2248fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2248	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554													8	390	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													9	588	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													7	427	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													7	639	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													12	227	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													17	312	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													12	175	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								7	201	---	---	---	---					
ZRANB2	9406	broad.mit.edu	37	1	71536532	71536533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:71536532_71536533insG	ENST00000370920.3	-	7	961_962	c.660_661insC	c.(658-663)cccaagfs	p.K221fs	ZRANB2_ENST00000254821.6_Frame_Shift_Ins_p.K221fs	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	221	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CTTGAACTTGAGGGGGAGGATG	0.381													7	1036	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													11	251	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													8	388	---	---	---	---					
VCAM1	7412	broad.mit.edu	37	1	101186128	101186128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:101186128delC	ENST00000294728.2	+	2	262	c.161delC	c.(160-162)tcfs	p.S54fs	VCAM1_ENST00000370115.1_Frame_Shift_Del_p.S54fs|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.S54fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	54	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGCTGTGAGTCCCCATTTTTC	0.468													17	79	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													45	484	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													14	521	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145561840	145561841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:145561840_145561841insG	ENST00000355594.4	+	10	1615_1616	c.1528_1529insG	c.(1528-1530)gggfs	p.G510fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	510								p.R510R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGCTGCCCGGGGGGCTTTG	0.629													7	388	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													12	922	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													9	152	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147092680	147092681	+	Frame_Shift_Ins	INS	-	-	C	rs35292683		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:147092680_147092681insC	ENST00000234739.3	+	8	3459_3460	c.2719_2720insC	c.(2719-2721)cccfs	p.P907fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGTT	0.619			T	"""IGH@, IGL@"""	B-ALL								7	353	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													10	337	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													9	607	---	---	---	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1131)gccfs	p.A377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								11	218	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576756	158576757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158576756_158576757insT	ENST00000361284.1	+	1	528_529	c.528_529insT	c.(526-531)cattttfs	p.HF176fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AAATCCAGCACTTTTTTTGTGA	0.490													7	618	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													15	1793	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160593935	160593936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:160593935_160593936insC	ENST00000302035.6	-	4	1089_1090	c.740_741insG	c.(739-741)ggtfs	p.G247fs	SLAMF1_ENST00000355199.3_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000538290.1_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000235739.5_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	247					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCATGATGACACCCCCTAACAG	0.391													10	2027	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													11	240	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167778957	167778958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:167778957_167778958insT	ENST00000367848.1	-	33	5011_5012	c.4514_4515insA	c.(4513-4515)aaafs	p.K1505fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.K1444fs|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.K1597fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1597					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGGAATTTGTTTTTTTGAAG	0.351													7	482	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													8	652	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													28	718	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													9	422	---	---	---	---					
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)gttfs	p.V787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668													16	799	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201751413	201751414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:201751413_201751414insC	ENST00000367296.4	+	6	2193_2194	c.1773_1774insC	c.(1771-1776)aaccccfs	p.NP591fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.NP604fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.NP591fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.NP200fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.NP591fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.NP591fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	591					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ATGCTAAGAAGCCCCCCTCGGG	0.579													8	522	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													7	793	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													17	281	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													14	456	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208391175	208391176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:208391175_208391176insG	ENST00000367033.3	-	2	849_850	c.92_93insC	c.(91-93)cgcfs	p.R31fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	31					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCGGCTGCTGGGGGGGCCAG	0.653													9	173	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													9	516	---	---	---	---					
GPR113	165082	broad.mit.edu	37	2	26534412	26534413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:26534412_26534413insC	ENST00000333478.6	-	8	2168_2169	c.1586_1587insG	c.(1585-1587)gtgfs	p.V529fs	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Frame_Shift_Ins_p.V728fs|GPR113_ENST00000421160.2_Frame_Shift_Ins_p.V659fs|GPR113_ENST00000541401.1_Frame_Shift_Ins_p.V331fs	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	728					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G529fs*46(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGACCAACCCCCCCTGCC	0.614													7	170	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													9	392	---	---	---	---					
ETAA1	54465	broad.mit.edu	37	2	67624591	67624591	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:67624591delG	ENST00000272342.5	+	1	141	c.11delG	c.(10-12)cafs	p.R5fs		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	5						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATGAGTCGGCGAAGGAAACAT	0.597													2	4	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													9	666	---	---	---	---					
SLC9A2	6549	broad.mit.edu	37	2	103324745	103324746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:103324745_103324746insC	ENST00000233969.2	+	12	2378_2379	c.2236_2237insC	c.(2236-2238)cccfs	p.P746fs		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAACA	0.530													22	376	---	---	---	---					
ANAPC1	64682	broad.mit.edu	37	2	112582738	112582739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:112582738_112582739insG	ENST00000341068.3	-	23	3482_3483	c.2710_2711insC	c.(2710-2712)gaafs	p.E904fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	904					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTGCAACTTCTGGGGGGCTAAA	0.302													7	345	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													12	267	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													14	932	---	---	---	---					
ZDBF2	57683	broad.mit.edu	37	2	207174869	207174869	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:207174869delA	ENST00000374423.3	+	5	6003	c.5617delA	c.(5617-5619)aafs	p.K1875fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1875							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCGAAGGGGAAAAAAAAGGT	0.413													7	119	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													13	394	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													15	278	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								7	175	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	66	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	736	---	---	---	---					
SCN10A	6336	broad.mit.edu	37	3	38739682	38739683	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:38739682_38739683insG	ENST00000449082.2	-	27	5027_5028	c.5028_5029insC	c.(5026-5031)ccactgfs	p.L1677fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1677					sensory perception	voltage-gated sodium channel complex		p.Y1677fs*21(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGTCACAGTAGGGGGGCCCTG	0.589													7	273	---	---	---	---					
TRAK1	22906	broad.mit.edu	37	3	42242449	42242450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:42242449_42242450insC	ENST00000327628.5	+	12	1730_1731	c.1330_1331insC	c.(1330-1332)cccfs	p.P444fs	TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.P370fs|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCGTCAGCACCCCCCGGTCC	0.594													8	273	---	---	---	---					
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:56789130_56789131insG	ENST00000413728.2	-	3	814_815	c.271_272insC	c.(271-273)accfs	p.T91fs	ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579													9	332	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545													7	119	---	---	---	---					
ROBO2	6092	broad.mit.edu	37	3	77595587	77595588	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:77595587_77595588insT	ENST00000461745.1	+	7	1933_1934	c.1033_1034insT	c.(1033-1035)tttfs	p.F345fs	ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.F345fs|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.F361fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	345	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAGCCAGCTGTTTTTTGGCAG	0.485													7	558	---	---	---	---					
GPR156	165829	broad.mit.edu	37	3	119885959	119885960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:119885959_119885960insC	ENST00000464295.1	-	10	2809_2810	c.2364_2365insG	c.(2362-2367)ggtggcfs	p.G789fs	GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs|GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	789						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGGAAGCCAGCCCCCCAGTAG	0.550													7	431	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													9	303	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													8	1006	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125647237	125647238	+	RNA	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:125647237_125647238insC	ENST00000485843.1	+	0	482					NR_024251.1																						CTTGGACACCGCCCCCCCACCC	0.564													2	4	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													12	450	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													11	408	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													13	151	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													9	203	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589													8	259	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													7	165	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													7	816	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													7	224	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													8	193	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													9	350	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													8	140	---	---	---	---					
CHD1	1105	broad.mit.edu	37	5	98193965	98193966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:98193965_98193966insT	ENST00000284049.3	-	34	4854_4855	c.4705_4706insA	c.(4705-4707)tgafs	p.*1569fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1569					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCTGGAATCACTTTTTTTGTAA	0.406													7	582	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127599140	127599141	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:127599140_127599141insG	ENST00000508053.1	-	69	9142_9143	c.8168_8169insC	c.(8167-8169)cggfs	p.R2723fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R2723fs			P35556	FBN2_HUMAN	fibrillin 2	2723	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTAATACCCAGGGGGGCAGCC	0.594													9	328	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													11	1487	---	---	---	---					
SRA1	10011	broad.mit.edu	37	5	139931628	139931629	+	In_Frame_Ins	INS	-	-	GTC	rs148588257	by1000genomes	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:139931628_139931629insGTC	ENST00000336283.6	-	3	1149_1150	c.328_329insGAC	c.(328-330)gat>GACgat	p.110_110D>DD	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	110				V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589													28	165	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													8	235	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													11	355	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													10	392	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													14	327	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													12	256	---	---	---	---					
OR5V1	81696	broad.mit.edu	37	6	29323424	29323425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:29323424_29323425insG	ENST00000377154.1	-	4	847_848	c.548_549insC	c.(547-549)cttfs	p.L183fs	OR5V1_ENST00000543825.1_Frame_Shift_Ins_p.L183fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183H(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATCAGCAAAGGGGGGATGTC	0.455													8	821	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													15	279	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													19	348	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1																						TGAAAATAGGATTGGGAGAGTA	0.475													24	35	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													8	1012	---	---	---	---					
CDC5L	988	broad.mit.edu	37	6	44397498	44397498	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:44397498delA	ENST00000371477.3	+	14	2241	c.1942delA	c.(1942-1944)gcfs	p.S648fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	648	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAAGGAATGAGCCATGGAGA	0.428													18	560	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508369	71508370	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:71508369_71508370insA	ENST00000370455.3	+	6	753_754	c.505_506insA	c.(505-507)aaafs	p.K169fs	SMAP1_ENST00000370452.3_Frame_Shift_Ins_p.K142fs|SMAP1_ENST00000316999.5_Frame_Shift_Ins_p.K142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						gaaagaaaaggaaaaaaaaaag	0.287													2	4	---	---	---	---					
FILIP1	27145	broad.mit.edu	37	6	76018415	76018416	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:76018415_76018416insC	ENST00000237172.7	-	6	3963_3964	c.3633_3634insG	c.(3631-3636)ggagggfs	p.G1212fs	FILIP1_ENST00000393004.2_Intron|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Frame_Shift_Ins_p.G1113fs	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1212										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTCAGCCCTTCCCCCCTCCGA	0.505													20	726	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					20	462	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													17	667	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													7	943	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													9	208	---	---	---	---					
C7orf57	136288	broad.mit.edu	37	7	48086205	48086205	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:48086205delA	ENST00000348904.3	+	5	711	c.499delA	c.(499-501)aafs	p.K169fs	C7orf57_ENST00000539619.1_Frame_Shift_Del_p.K169fs|C7orf57_ENST00000420324.1_Frame_Shift_Del_p.K214fs|C7orf57_ENST00000435376.1_Frame_Shift_Del_p.K47fs|C7orf57_ENST00000430738.1_Frame_Shift_Del_p.K214fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	169										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGAAAAGGAGAAAAAAAAGGT	0.498													9	136	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					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)	CCAGGACCGTGCCCCCCGACTT	0.564													10	307	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													7	369	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													10	151	---	---	---	---					
CDHR3	222256	broad.mit.edu	37	7	105655641	105655642	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:105655641_105655642insC	ENST00000542731.1	+	10	1417_1418	c.1309_1310insC	c.(1309-1311)cccfs	p.P437fs	CDHR3_ENST00000478080.1_Frame_Shift_Ins_p.P349fs|CDHR3_ENST00000343407.5_Frame_Shift_Ins_p.P154fs|CDHR3_ENST00000317716.9_Frame_Shift_Ins_p.P437fs|CDHR3_ENST00000470188.1_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCAGGATGTGGCCCCCCCTTAC	0.396													7	72	---	---	---	---					
WNT16	51384	broad.mit.edu	37	7	120971878	120971879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:120971878_120971879insG	ENST00000222462.2	+	3	783_784	c.493_494insG	c.(493-495)gggfs	p.G165fs	WNT16_ENST00000361301.2_Frame_Shift_Ins_p.G155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTGC	0.535													11	100	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													7	483	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11994626	11994627	+	RNA	DEL	GT	GT	-	rs138516564	by1000genomes	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:11994626_11994627delGT	ENST00000434078.2	+	0	608					NR_027425.1																						gtatttgtgcgtgtgtgtgtgt	0.510													9	80	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													7	845	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													20	270	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	118812003	118812004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:118812003_118812004insG	ENST00000378204.2	-	11	2994_2995	c.2188_2189insC	c.(2188-2190)agafs	p.R730fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	730					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACCTGGTCTTTAAAGAGGACG	0.535			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				15	196	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35043649	35043650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:35043649_35043650insC	ENST00000312292.5	+	2	1070_1071	c.1023_1024insC	c.(1021-1026)ccccccfs	p.PP341fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.PP268fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.PP293fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCCA	0.530													7	1324	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													9	149	---	---	---	---					
FAM74A4	401508	broad.mit.edu	37	9	41306238	41306238	+	RNA	DEL	G	G	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:41306238delG	ENST00000427006.2	-	0	546																				lung(1)	1						AAGGTTAAGAGAAGGGTGACA	0.358													10	48	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													9	426	---	---	---	---					
INVS	27130	broad.mit.edu	37	9	103054904	103054905	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:103054904_103054905insC	ENST00000262457.2	+	14	2550_2551	c.2365_2366insC	c.(2365-2367)cccfs	p.P789fs	INVS_ENST00000541287.1_Frame_Shift_Ins_p.P693fs|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	789					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GGCCAAATGTGCCCCCCAGAAA	0.649													8	140	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													11	462	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													12	521	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:13325834_13325835insC	ENST00000396920.3	-	7	1036_1037	c.632_633insG	c.(631-633)ggtfs	p.G211fs	PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465													9	646	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:24822125_24822127delGAA	ENST00000376451.2	+	11	2682_2684	c.2422_2424delGAA	c.(2422-2424)del	p.E812del	KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del			Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													8	365	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													7	261	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													7	498	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													12	134	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													12	730	---	---	---	---					
SH3PXD2A	9644	broad.mit.edu	37	10	105484097	105484098	+	Frame_Shift_Ins	INS	-	-	G	rs149867987		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:105484097_105484098insG	ENST00000369774.4	-	5	604_605	c.328_329insC	c.(328-330)catfs	p.H110fs	SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.H110fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	110	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTGAGATGTGGGGGGGCAGC	0.535													10	57	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													10	259	---	---	---	---					
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)gggfs	p.G154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559													23	898	---	---	---	---					
OR56B4	196335	broad.mit.edu	37	11	6129868	6129869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:6129868_6129869insC	ENST00000316529.3	+	1	955_956	c.860_861insC	c.(859-861)accfs	p.T287fs	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAATGTCATCCCCCCTGCAC	0.510													9	542	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													12	166	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	788	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406													7	182	---	---	---	---					
EHF	26298	broad.mit.edu	37	11	34667996	34667997	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:34667996_34667997insT	ENST00000257831.3	+	3	229_230	c.108_109insT	c.(106-111)ggttttfs	p.GF36fs	EHF_ENST00000530286.1_Frame_Shift_Ins_p.GF36fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.GF36fs|EHF_ENST00000527001.1_3'UTR|EHF_ENST00000533754.1_Frame_Shift_Ins_p.GF36fs|EHF_ENST00000450654.2_Frame_Shift_Ins_p.GF36fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.GF36fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.GF58fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	36	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F38fs*51(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTTCCAGTGGGTTTTTTGGAGG	0.535													8	577	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													9	580	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													8	833	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													8	251	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													7	483	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					10	224	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)ccaagtfs	p.S751fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411													7	319	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													7	137	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													12	1214	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113857332	113857333	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:113857332_113857333insC	ENST00000504030.2	+	7	1243_1244	c.798_799insC	c.(796-801)ctccccfs	p.LP266fs	HTR3A_ENST00000299961.5_Frame_Shift_Ins_p.LP251fs|HTR3A_ENST00000506841.2_Frame_Shift_Ins_p.LP266fs|HTR3A_ENST00000355556.2_Frame_Shift_Ins_p.LP272fs|HTR3A_ENST00000375498.2_Frame_Shift_Ins_p.LP272fs|HTR3A_ENST00000535865.1_Frame_Shift_Ins_p.LP10fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	266					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCTTCTACCTGCCCCCCAACAG	0.594													10	167	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													9	402	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								23	283	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													8	1031	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													11	1329	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													10	98	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													9	245	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gccfs	p.A499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML								9	571	---	---	---	---					
SCNN1A	6337	broad.mit.edu	37	12	6457044	6457045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:6457044_6457045insC	ENST00000358945.3	-	13	2510_2511	c.2070_2071insG	c.(2068-2073)ggcctgfs	p.L691fs	SCNN1A_ENST00000540037.1_Frame_Shift_Ins_p.L369fs|SCNN1A_ENST00000228916.2_Frame_Shift_Ins_p.L669fs|SCNN1A_ENST00000360168.3_Frame_Shift_Ins_p.L728fs|SCNN1A_ENST00000543768.1_Frame_Shift_Ins_p.L692fs|SCNN1A_ENST00000396966.2_3'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	669					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCCTCTCAGGGCCCCCCCAGAG	0.658													3	5	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													8	214	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													14	869	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14947511	14947512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:14947511_14947512insG	ENST00000261167.2	-	7	913_914	c.680_681insC	c.(679-681)ccgfs	p.P227fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.P227fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	227					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTCGCCTACGAGGGGGAAGATC	0.480													10	1389	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													7	121	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													26	2979	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-444)tggfs	p.W148fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455													8	594	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													17	291	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													10	167	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114346	57114346	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:57114346delA	ENST00000454682.1	-	3	1249	c.968delT	c.(967-969)tafs	p.L323fs	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.L323fs|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTTGACCTAAAAGTTGGAC	0.468			T	BCL6	NHL								17	92	---	---	---	---					
OAS3	4940	broad.mit.edu	37	12	113388496	113388497	+	Splice_Site	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:113388496_113388497insG	ENST00000228928.7	+	7	1553		c.e7-1		RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa						interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTCCCTCCACAGGGGGGCTCAT	0.594													8	479	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													10	711	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													21	452	---	---	---	---					
TMEM55B	90809	broad.mit.edu	37	14	20928945	20928946	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:20928945_20928946insG	ENST00000250489.4	-	2	487_488	c.201_202insC	c.(199-204)ccattcfs	p.F68fs	TMEM55B_ENST00000398020.4_Frame_Shift_Ins_p.F75fs			Q86T03	TM55B_HUMAN	transmembrane protein 55B	68	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AAGGGTGAATAGGGGGGTGGGT	0.574													10	238	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													10	652	---	---	---	---					
TRAV2	28691	broad.mit.edu	37	14	22181052	22181053	+	RNA	DEL	CT	CT	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:22181052_22181053delCT	ENST00000390424.2	+	0	334_335																											CTGTTTACTACTGTGCTGTGGA	0.505													23	226	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													13	258	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)gggfs	p.G326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644													7	165	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													21	482	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33261370	33261371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:33261370_33261371insG	ENST00000334528.9	-	4	1861_1862	c.1862_1863insC	c.(1861-1863)caafs	p.Q621fs	FMN1_ENST00000561249.1_Frame_Shift_Ins_p.Q746fs|FMN1_ENST00000559047.1_Frame_Shift_Ins_p.Q844fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	844	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGTGGTCATTTGGGGGTGAGAG	0.505													9	312	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)atfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													8	659	---	---	---	---					
BUB1B	701	broad.mit.edu	37	15	40477505	40477506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:40477505_40477506insC	ENST00000287598.6	+	7	1086_1087	c.891_892insC	c.(889-894)gcccccfs	p.AP297fs	BUB1B_ENST00000412359.3_Frame_Shift_Ins_p.AP311fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATGGATAGCACCCCCCATGCC	0.475			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				7	653	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	156	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													9	234	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5623-5628)caccccfs	p.HP1875fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													9	159	---	---	---	---					
ZNF668	79759	broad.mit.edu	37	16	31072705	31072706	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:31072705_31072706insG	ENST00000538906.1	-	3	2327_2328	c.1543_1544insC	c.(1543-1545)gttfs	p.V515fs	ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.V515fs	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCACACAAACTGGGGGGGCTTC	0.663													8	95	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													7	101	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													8	183	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574													9	1488	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668442	+	Frame_Shift_Ins	INS	-	-	G	rs150498655	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:71668441_71668442insG	ENST00000268485.3	+	3	985_986	c.941_942insG	c.(940-942)gggfs	p.G314fs	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	314	MARVEL.					integral to membrane		p.A314V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTACA	0.579													8	73	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					14	980	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													8	775	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													12	218	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:7798764_7798765insC	ENST00000380358.4	+	10	1789_1790	c.1788_1789insC	c.(1786-1791)ccccccfs	p.PP596fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574													14	239	---	---	---	---					
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)gggfs	p.G528fs	TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								7	101	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													7	837	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46135787	46135788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:46135787_46135788insG	ENST00000362042.3	+	6	1719_1720	c.1103_1104insG	c.(1102-1104)cggfs	p.R368fs	NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R357fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R180fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R212fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R169fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	368					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGCA	0.604													9	311	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)gccfs	p.A659fs	RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599													8	159	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													7	1110	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													10	336	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.530													7	595	---	---	---	---					
ADAMTS10	81794	broad.mit.edu	37	19	8660750	8660751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:8660750_8660751insG	ENST00000270328.4	-	11	1640_1641	c.1374_1375insC	c.(1372-1377)ccgacafs	p.T459fs	ADAMTS10_ENST00000597188.1_Frame_Shift_Ins_p.T459fs			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	459					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AAGTCCTGTCTGGGGGGCCGGT	0.569													8	385	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:12155708_12155709insT	ENST00000602107.1	-	5	647_648	c.648_649insA	c.(646-651)aacctafs	p.NL216fs	ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411													11	402	---	---	---	---					
KLHL26	55295	broad.mit.edu	37	19	18780017	18780018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:18780017_18780018insC	ENST00000300976.4	+	3	1900_1901	c.1810_1811insC	c.(1810-1812)cccfs	p.P604fs	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	604										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATAGCCTGCGCCCCCGTCCTG	0.663													2	4	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)ccgcacfs	p.H150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604													7	136	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													9	241	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													16	769	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													7	132	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													9	323	---	---	---	---					
ZNF524	147807	broad.mit.edu	37	19	56113645	56113646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:56113645_56113646insC	ENST00000591046.1	+	1	401_402	c.167_168insC	c.(166-168)cccfs	p.P56fs	ZNF524_ENST00000301073.3_Frame_Shift_Ins_p.P56fs			Q96C55	ZN524_HUMAN	zinc finger protein 524	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K59fs*31(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAGCGGGGCCGCCCCCCCAAGT	0.688													2	4	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													20	418	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													19	375	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													7	65	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36676873	36676874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:36676873_36676874insC	ENST00000373433.4	+	3	807_808	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	135										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CCAAGAGCCCTCCCCCCAAAGG	0.470													7	411	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													11	175	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													11	308	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													9	251	---	---	---	---					
PCK1	5105	broad.mit.edu	37	20	56137217	56137217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:56137217delC	ENST00000319441.4	+	3	479	c.315delC	c.(313-315)atfs	p.I105fs	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	105					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGTGCCCATCCCCAAAACAG	0.547													9	65	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													25	1012	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	372	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													9	574	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4518)cggfs	p.R1506fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.480													7	781	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													29	561	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													15	404	---	---	---	---					
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:11316741_11316742insC	ENST00000380712.3	+	6	328_329	c.260_261insC	c.(259-261)cccfs	p.P87fs	AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	73					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCCAACAGCACCCCCCGACTC	0.594													7	345	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													9	218	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													11	708	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													15	1413	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													12	698	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65486286	65486287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:65486286_65486287insC	ENST00000519389.1	+	21	3590_3591	c.3411_3412insC	c.(3409-3414)gtccccfs	p.VP1137fs	HEPH_ENST00000336279.5_Frame_Shift_Ins_p.VP816fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.VP894fs|HEPH_ENST00000441993.2_Splice_Site_p.VP1085_splice|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.VP1086fs|HEPH_ENST00000343002.2_Frame_Shift_Ins_p.VP1083fs			Q9BQS7	HEPH_HUMAN	hephaestin	1083					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						TTTCAGCAGTGCCCCCCAGAGA	0.436													7	356	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				11	102	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73960933	73960934	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:73960933_73960934insT	ENST00000373468.1	-	3	4109_4110	c.3458_3459insA	c.(3457-3459)accfs	p.T1153fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.T1153fs			Q5QGS0	K2022_HUMAN	KIAA2022	1153					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACAGGCAAGGGTTTTTTTGGAG	0.401													16	745	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													16	1289	---	---	---	---					
P2RY10	27334	broad.mit.edu	37	X	78216880	78216881	+	Frame_Shift_Ins	INS	-	-	T	rs34553009		TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:78216880_78216881insT	ENST00000171757.2	+	4	1143_1144	c.863_864insT	c.(862-864)cttfs	p.L288fs	P2RY10_ENST00000544091.1_Frame_Shift_Ins_p.L288fs	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	288						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TATTTCCACCCTTTTTGCCTGT	0.426													7	2345	---	---	---	---					
NOX1	27035	broad.mit.edu	37	X	100125757	100125760	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:100125757_100125760delAGGA	ENST00000372966.3	-	2	294_297	c.89_92delTCCT	c.(88-93)tgfs	p.FL30fs	NOX1_ENST00000372964.1_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000372960.4_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000217885.5_Frame_Shift_Del_p.FL30fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	30					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCATATTTCAGGAAGGCATCCAC	0.377													27	387	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:129146962_129146963insG	ENST00000540052.1	+	3	258_259	c.214_215insG	c.(214-216)gggfs	p.G72fs	BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569													7	525	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438													2	4	---	---	---	---					
RAB39B	116442	broad.mit.edu	37	X	154490194	154490195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:154490194_154490195insC	ENST00000369454.3	-	2	835_836	c.535_536insG	c.(535-537)gatfs	p.D179fs		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	179					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGTAATCTCCCCCCTTTTA	0.465													7	361	---	---	---	---					
VCAM1	7412	broad.mit.edu	37	1	101186128	101186128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:101186128delC	ENST00000294728.2	+	2	262	c.161delC	c.(160-162)tcfs	p.S54fs	VCAM1_ENST00000370115.1_Frame_Shift_Del_p.S54fs|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.S54fs|VCAM1_ENST00000370119.4_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	54	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGCTGTGAGTCCCCATTTTTC	0.468													21	115	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12293343	12293351	+	RNA	DEL	TTCCTTCCC	TTCCTTCCC	-	rs112549370		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:12293343_12293351delTTCCTTCCC	ENST00000412294.1	+	0	197																											cttcattcctttccttcccttccttccct	0.426													3	5	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													10	197	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													2	4	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	118812003	118812004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:118812003_118812004insG	ENST00000378204.2	-	11	2994_2995	c.2188_2189insC	c.(2188-2190)agafs	p.R730fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	730					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACCTGGTCTTTAAAGAGGACG	0.535			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				8	85	---	---	---	---					
FAM74A4	401508	broad.mit.edu	37	9	41306238	41306238	+	RNA	DEL	G	G	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:41306238delG	ENST00000427006.2	-	0	546																				lung(1)	1						AAGGTTAAGAGAAGGGTGACA	0.358													9	51	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65270829	65270830	+	RNA	INS	-	-	GA			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:65270829_65270830insGA	ENST00000534336.1	+	0	5597_5598					NR_002819.2																						TTGTAGGACTTGTTCCTGTGGG	0.401													10	82	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114346	57114346	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:57114346delA	ENST00000454682.1	-	3	1249	c.968delT	c.(967-969)tafs	p.L323fs	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.L323fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTTGACCTAAAAGTTGGAC	0.468			T	BCL6	NHL								12	55	---	---	---	---					
FZD10	11211	broad.mit.edu	37	12	130648791	130648791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:130648791delA	ENST00000539839.1	+	1	1788	c.1206delA	c.(1204-1206)ggfs	p.G402fs	FZD10_ENST00000229030.4_Frame_Shift_Del_p.D435fs	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGAACACGGACAAGCTGGAG	0.602													10	62	---	---	---	---					
TRAV2	28691	broad.mit.edu	37	14	22181052	22181053	+	RNA	DEL	CT	CT	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:22181052_22181053delCT	ENST00000390424.2	+	0	334_335																											CTGTTTACTACTGTGCTGTGGA	0.505													10	90	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR|ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													4	2	---	---	---	---					
PCK1	5105	broad.mit.edu	37	20	56137217	56137217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:56137217delC	ENST00000319441.4	+	3	479	c.315delC	c.(313-315)atfs	p.I105fs	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	105					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGTGCCCATCCCCAAAACAG	0.547													7	76	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73043145	73043146	+	RNA	DEL	TT	TT	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:73043145_73043146delTT	ENST00000604411.1	+	0	31106_31107				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						tttttctttctttttttttttt	0.347													2	4	---	---	---	---					
NOX1	27035	broad.mit.edu	37	X	100125757	100125760	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:100125757_100125760delAGGA	ENST00000372966.3	-	2	294_297	c.89_92delTCCT	c.(88-93)tgfs	p.FL30fs	NOX1_ENST00000372964.1_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000372960.4_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000217885.5_Frame_Shift_Del_p.FL30fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	30					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCATATTTCAGGAAGGCATCCAC	0.377													18	175	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2192_splice	c.e20+1	p.PG730_splice	NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	730	NBPF 3.					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)		CAGTGTTACCTGGGGGCAGACG	0.431													7	1749	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													7	427	---	---	---	---					
VCAM1	7412	broad.mit.edu	37	1	101186128	101186128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:101186128delC	ENST00000294728.2	+	2	262	c.161delC	c.(160-162)tcfs	p.S54fs	VCAM1_ENST00000347652.2_Frame_Shift_Del_p.S54fs|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Frame_Shift_Del_p.S54fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	54	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGCTGTGAGTCCCCATTTTTC	0.468													17	79	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167778957	167778958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:167778957_167778958insT	ENST00000367848.1	-	33	5011_5012	c.4514_4515insA	c.(4513-4515)aaafs	p.K1505fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.K1444fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.K1597fs|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1597					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGGAATTTGTTTTTTTGAAG	0.351													7	482	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216258077	216258077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:216258077delG	ENST00000366943.2	-	25	5516	c.5130delC	c.(5128-5130)ccfs	p.P1710fs	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Frame_Shift_Del_p.P1710fs|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1710					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P1710P(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAATGAAGCGGGACATCCCT	0.388										HNSCC(13;0.011)			58	630	---	---	---	---					
ETAA1	54465	broad.mit.edu	37	2	67624591	67624591	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:67624591delG	ENST00000272342.5	+	1	141	c.11delG	c.(10-12)cafs	p.R5fs		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	5						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATGAGTCGGCGAAGGAAACAT	0.597													2	4	---	---	---	---					
ROBO2	6092	broad.mit.edu	37	3	77595587	77595588	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:77595587_77595588insT	ENST00000461745.1	+	7	1933_1934	c.1033_1034insT	c.(1033-1035)tttfs	p.F345fs	ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.F345fs|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.F361fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	345	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAGCCAGCTGTTTTTTGGCAG	0.485													7	558	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125647237	125647238	+	RNA	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:125647237_125647238insC	ENST00000485843.1	+	0	482					NR_024251.1																						CTTGGACACCGCCCCCCCACCC	0.564													2	4	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													7	165	---	---	---	---					
CDC5L	988	broad.mit.edu	37	6	44397498	44397498	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr6:44397498delA	ENST00000371477.3	+	14	2241	c.1942delA	c.(1942-1944)gcfs	p.S648fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	648	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAAGGAATGAGCCATGGAGA	0.428													18	560	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													3	3	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	118812003	118812004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:118812003_118812004insG	ENST00000378204.2	-	11	2994_2995	c.2188_2189insC	c.(2188-2190)agafs	p.R730fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	730					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACCTGGTCTTTAAAGAGGACG	0.535			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				15	196	---	---	---	---					
FAM74A4	401508	broad.mit.edu	37	9	41306238	41306238	+	RNA	DEL	G	G	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:41306238delG	ENST00000427006.2	-	0	546																				lung(1)	1						AAGGTTAAGAGAAGGGTGACA	0.358													10	48	---	---	---	---					
SCNN1A	6337	broad.mit.edu	37	12	6457044	6457045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:6457044_6457045insC	ENST00000358945.3	-	13	2510_2511	c.2070_2071insG	c.(2068-2073)ggcctgfs	p.L691fs	SCNN1A_ENST00000540037.1_Frame_Shift_Ins_p.L369fs|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Frame_Shift_Ins_p.L728fs|SCNN1A_ENST00000228916.2_Frame_Shift_Ins_p.L669fs|SCNN1A_ENST00000543768.1_Frame_Shift_Ins_p.L692fs			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	669					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCCTCTCAGGGCCCCCCCAGAG	0.658													3	5	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546732	11546733	+	In_Frame_Ins	INS	-	-	AGA			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:11546732_11546733insAGA	ENST00000389362.4	-	3	314_315	c.279_280insTCT	c.(277-282)ccctcc>ccTCTctcc	p.93_94PS>PLS	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGTGGGGGACCTT	0.614													8	958	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14947511	14947512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:14947511_14947512insG	ENST00000261167.2	-	7	913_914	c.680_681insC	c.(679-681)ccgfs	p.P227fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.P227fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	227					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTCGCCTACGAGGGGGAAGATC	0.480													10	1389	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114346	57114346	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:57114346delA	ENST00000454682.1	-	3	1249	c.968delT	c.(967-969)tafs	p.L323fs	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.L323fs	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTTGACCTAAAAGTTGGAC	0.468			T	BCL6	NHL								17	92	---	---	---	---					
TRAV2	28691	broad.mit.edu	37	14	22181052	22181053	+	RNA	DEL	CT	CT	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:22181052_22181053delCT	ENST00000390424.2	+	0	334_335																											CTGTTTACTACTGTGCTGTGGA	0.505													23	226	---	---	---	---					
LOC101929457	101929457	broad.mit.edu	37	15	77819324	77819325	+	RNA	INS	-	-	AG	rs148102387	by1000genomes	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:77819324_77819325insAG	ENST00000561283.2	+	0	806																											AGGCCAGGACTACGCCCACGTG	0.629													2	4	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668442	+	Frame_Shift_Ins	INS	-	-	G	rs150498655	byFrequency	TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:71668441_71668442insG	ENST00000268485.3	+	3	985_986	c.941_942insG	c.(940-942)gggfs	p.G314fs	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	314	MARVEL.					integral to membrane		p.A314V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTACA	0.579													8	73	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													8	133	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46135787	46135788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:46135787_46135788insG	ENST00000362042.3	+	6	1719_1720	c.1103_1104insG	c.(1102-1104)cggfs	p.R368fs	NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R169fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R180fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R357fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R212fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	368					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGCA	0.604													9	311	---	---	---	---					
KLHL26	55295	broad.mit.edu	37	19	18780017	18780018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:18780017_18780018insC	ENST00000300976.4	+	3	1900_1901	c.1810_1811insC	c.(1810-1812)cccfs	p.P604fs	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	604										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATAGCCTGCGCCCCCGTCCTG	0.663													2	4	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)ccgcacfs	p.H150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604													7	136	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													7	65	---	---	---	---					
PCK1	5105	broad.mit.edu	37	20	56137217	56137217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:56137217delC	ENST00000319441.4	+	3	479	c.315delC	c.(313-315)atfs	p.I105fs	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	105					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGTGCCCATCCCCAAAACAG	0.547													9	65	---	---	---	---					
NOX1	27035	broad.mit.edu	37	X	100125757	100125760	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:100125757_100125760delAGGA	ENST00000372966.3	-	2	294_297	c.89_92delTCCT	c.(88-93)tgfs	p.FL30fs	NOX1_ENST00000372960.4_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000372964.1_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000217885.5_Frame_Shift_Del_p.FL30fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	30					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCATATTTCAGGAAGGCATCCAC	0.377													27	387	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-44-2655-01A-01W-0928-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff31fcaa-13b4-4976-8818-e9d927cfed04	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438													2	4	---	---	---	---					
VCAM1	7412	broad.mit.edu	37	1	101186128	101186128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:101186128delC	ENST00000294728.2	+	2	262	c.161delC	c.(160-162)tcfs	p.S54fs	VCAM1_ENST00000347652.2_Frame_Shift_Del_p.S54fs|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Frame_Shift_Del_p.S54fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	54	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGCTGTGAGTCCCCATTTTTC	0.468													21	115	---	---	---	---					
ECM1	1893	broad.mit.edu	37	1	150483457	150483458	+	Frame_Shift_Ins	INS	-	-	G	rs1050874		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:150483457_150483458insG	ENST00000369047.4	+	6	616_617	c.491_492insG	c.(490-492)cgafs	p.R164fs	ECM1_ENST00000369049.4_Frame_Shift_Ins_p.R191fs|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.R164fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	164	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCCACCGGCTGGATGGCTTCC	0.604													9	336	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													7	174	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216258077	216258077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:216258077delG	ENST00000366943.2	-	25	5516	c.5130delC	c.(5128-5130)ccfs	p.P1710fs	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Frame_Shift_Del_p.P1710fs|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1710					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P1710P(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAATGAAGCGGGACATCCCT	0.388										HNSCC(13;0.011)			32	232	---	---	---	---					
OR2L13	284521	broad.mit.edu	37	1	248263051	248263052	+	Frame_Shift_Ins	INS	-	-	C	rs77969265		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr1:248263051_248263052insC	ENST00000366478.2	+	3	711_712	c.374_375insC	c.(373-375)atgfs	p.M125fs	OR2L13_ENST00000358120.2_Frame_Shift_Ins_p.M125fs	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TATTTGGCCATCTGCCACTCTC	0.500													7	545	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12293343	12293351	+	RNA	DEL	TTCCTTCCC	TTCCTTCCC	-	rs112549370		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:12293343_12293351delTTCCTTCCC	ENST00000412294.1	+	0	197																											cttcattcctttccttcccttccttccct	0.426													3	5	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179413026	179413027	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr2:179413026_179413027insA	ENST00000589042.1	-	339	93550_93551	c.93326_93327insT	c.(93325-93327)ggcfs	p.G31109fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.G22044fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.G22169fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.G28541fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.G22236fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.G29468fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29468	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCTGTGGCTACAATTGGTTC	0.480													10	283	---	---	---	---					
NUP210	23225	broad.mit.edu	37	3	13367359	13367360	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:13367359_13367360insC	ENST00000254508.5	-	33	4661_4662	c.4579_4580insG	c.(4579-4581)ccgfs	p.P1527fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1527					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACGGCCCGGGCCACAGCCACA	0.639													11	112	---	---	---	---					
DIRC2	84925	broad.mit.edu	37	3	122575166	122575167	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr3:122575166_122575167insG	ENST00000261038.5	+	6	1353_1354	c.955_956insG	c.(955-957)gatfs	p.D319fs		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	319					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		AGATGCTGGCTGGATTGGATTT	0.376													7	531	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr4:1957868_1957869insC	ENST00000382895.3	+	17	3265_3266	c.2834_2835insC	c.(2833-2835)gagfs	p.E945fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.E293fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.E945fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	945					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.510			T	IGH@	MM								21	210	---	---	---	---					
ZNF366	167465	broad.mit.edu	37	5	71757223	71757224	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr5:71757223_71757224insAA	ENST00000318442.5	-	2	590_591	c.100_101insTT	c.(100-102)tcgfs	p.S34fs		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTTTCCCCGAGAAGCCACTGGC	0.554													11	105	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89					NR_003655.2																						TCCTCCCACCCTGAGTCTAAAC	0.559													11	34	---	---	---	---					
TAF6	6878	broad.mit.edu	37	7	99710434	99710435	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:99710434_99710435insG	ENST00000344095.4	-	6	1085_1086	c.560_561insC	c.(559-561)agcfs	p.S187fs	TAF6_ENST00000437822.2_Frame_Shift_Ins_p.S224fs|TAF6_ENST00000418432.2_Frame_Shift_Ins_p.S111fs|TAF6_ENST00000453269.2_Frame_Shift_Ins_p.S187fs|TAF6_ENST00000472509.1_Frame_Shift_Ins_p.S244fs|TAF6_ENST00000452041.1_Frame_Shift_Ins_p.S187fs	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	187					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCGTCGGCTGTGGTGGCCCC	0.540													10	307	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr7:131195806_131195807insG	ENST00000541194.1	-	2	749_750	c.492_493insC	c.(490-495)aggccafs	p.RP164fs	PODXL_ENST00000322985.9_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000378555.3_Frame_Shift_Ins_p.RP162fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	162	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535													7	463	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	118812003	118812004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr8:118812003_118812004insG	ENST00000378204.2	-	11	2994_2995	c.2188_2189insC	c.(2188-2190)agafs	p.R730fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	730					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACCTGGTCTTTAAAGAGGACG	0.535			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				8	85	---	---	---	---					
FAM74A4	401508	broad.mit.edu	37	9	41306238	41306238	+	RNA	DEL	G	G	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:41306238delG	ENST00000427006.2	-	0	546																				lung(1)	1						AAGGTTAAGAGAAGGGTGACA	0.358													9	51	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116356322	116356323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr9:116356322_116356323insT	ENST00000462403.1	+	1	557_558	c.123_124insT	c.(121-126)gattttfs	p.DF41fs	RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	204					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCAGAAGGAATTTTTTTTTCC	0.624													7	384	---	---	---	---					
LGR4	55366	broad.mit.edu	37	11	27389604	27389605	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:27389604_27389605insA	ENST00000379214.4	-	18	3108_3109	c.2665_2666insT	c.(2665-2667)ccafs	p.P889fs	LGR4_ENST00000389858.4_Frame_Shift_Ins_p.P865fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	889						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGGTCTTTGGCAAGAAGCCACT	0.480													8	113	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65270829	65270830	+	RNA	INS	-	-	GA			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:65270829_65270830insGA	ENST00000534336.1	+	0	5597_5598					NR_002819.2																						TTGTAGGACTTGTTCCTGTGGG	0.401													10	82	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													9	18	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57111866	57111867	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:57111866_57111867insG	ENST00000454682.1	-	3	3728_3729	c.3447_3448insC	c.(3445-3450)cccaacfs	p.N1150fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTGGGGTTGTGGGGGCCCCTT	0.624			T	BCL6	NHL								7	205	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114346	57114346	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:57114346delA	ENST00000454682.1	-	3	1249	c.968delT	c.(967-969)tafs	p.L323fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.L323fs|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTTGACCTAAAAGTTGGAC	0.468			T	BCL6	NHL								12	55	---	---	---	---					
FZD10	11211	broad.mit.edu	37	12	130648791	130648791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr12:130648791delA	ENST00000539839.1	+	1	1788	c.1206delA	c.(1204-1206)ggfs	p.G402fs	FZD10_ENST00000229030.4_Frame_Shift_Del_p.D435fs	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGAACACGGACAAGCTGGAG	0.602													10	62	---	---	---	---					
TRAV2	28691	broad.mit.edu	37	14	22181052	22181053	+	RNA	DEL	CT	CT	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr14:22181052_22181053delCT	ENST00000390424.2	+	0	334_335																											CTGTTTACTACTGTGCTGTGGA	0.505													10	90	---	---	---	---					
PLA2G4F	255189	broad.mit.edu	37	15	42439942	42439943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:42439942_42439943insC	ENST00000397272.3	-	12	1174_1175	c.1083_1084insG	c.(1081-1086)gttgggfs	p.G362fs	PLA2G4F_ENST00000382396.4_Frame_Shift_Ins_p.G360fs	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	360	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCGGAACCCAACACAGCCACTA	0.530													13	62	---	---	---	---					
MPI	4351	broad.mit.edu	37	15	75185106	75185107	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr15:75185106_75185107insT	ENST00000352410.4	+	4	517_518	c.450_451insT	c.(448-453)ggtccgfs	p.P151fs	MPI_ENST00000565576.1_Frame_Shift_Ins_p.P151fs|MPI_ENST00000323744.6_Frame_Shift_Ins_p.P151fs|MPI_ENST00000562606.1_Frame_Shift_Ins_p.P131fs|MPI_ENST00000564003.1_Frame_Shift_Ins_p.P101fs|MPI_ENST00000563786.1_Frame_Shift_Ins_p.P131fs|MPI_ENST00000566377.1_Frame_Shift_Ins_p.P151fs|MPI_ENST00000535694.1_Frame_Shift_Ins_p.P101fs|MPI_ENST00000563422.1_Frame_Shift_Ins_p.P151fs			P34949	MPI_HUMAN	mannose phosphate isomerase	151					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GCTTGTGTGGCTTCCGGCCAGT	0.569													8	80	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													9	316	---	---	---	---					
KAT2A	2648	broad.mit.edu	37	17	40272817	40272818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:40272817_40272818insC	ENST00000225916.5	-	2	422_423	c.369_370insG	c.(367-372)tgaaaafs	p.*123fs	CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.*157fs	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	123					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.K124E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGGTTTTTCCAGCCATTAC	0.584													8	81	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													15	71	---	---	---	---					
GAA	2548	broad.mit.edu	37	17	78090873	78090874	+	Frame_Shift_Ins	INS	-	-	A	rs144016984		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr17:78090873_78090874insA	ENST00000302262.3	+	16	2515_2516	c.2296_2297insA	c.(2296-2298)cttfs	p.L766fs	GAA_ENST00000390015.3_Frame_Shift_Ins_p.L766fs	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	766					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGTGACTGGCTACTTCCCCTTG	0.658													9	58	---	---	---	---					
TICAM1	148022	broad.mit.edu	37	19	4817805	4817806	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:4817805_4817806insC	ENST00000248244.5	-	2	813_814	c.584_585insG	c.(583-585)ctcfs	p.L195fs		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	195					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCCAGTGGATCGCAGGGAGCA	0.658													7	72	---	---	---	---					
CCDC9	26093	broad.mit.edu	37	19	47774704	47774705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:47774704_47774705insG	ENST00000221922.6	+	12	1587_1588	c.1365_1366insG	c.(1363-1368)gcccccfs	p.AP455fs		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	455										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCAGAGGCTGCCCCCACCGG	0.644													10	44	---	---	---	---					
LILRP2	79166	broad.mit.edu	37	19	55221804	55221805	+	RNA	INS	-	-	AC	rs45583536		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr19:55221804_55221805insAC	ENST00000413439.1	+	0	1415																											CAGAGACAGAGACTGAGGGTCC	0.614													3	4	---	---	---	---					
PCK1	5105	broad.mit.edu	37	20	56137217	56137217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr20:56137217delC	ENST00000319441.4	+	3	479	c.315delC	c.(313-315)atfs	p.I105fs	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	105					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGTGCCCATCCCCAAAACAG	0.547													7	76	---	---	---	---					
SLC5A3	6526	broad.mit.edu	37	21	35468403	35468404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr21:35468403_35468404insG	ENST00000381151.3	+	2	1418_1419	c.906_907insG	c.(904-909)gcgcttfs	p.L303fs	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	303						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTTATGGCTGGCTTCTTAAA	0.470													8	250	---	---	---	---					
IGLV2-8	28817	broad.mit.edu	37	22	23165467	23165468	+	RNA	INS	-	-	CT			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chr22:23165467_23165468insCT	ENST00000390317.2	+	0	208																											TGTGTTTCTCCCTTTCCAGGGT	0.634													7	228	---	---	---	---					
NOX1	27035	broad.mit.edu	37	X	100125757	100125760	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	39735a2a-f248-423e-a2a6-65be25671ede	g.chrX:100125757_100125760delAGGA	ENST00000372966.3	-	2	294_297	c.89_92delTCCT	c.(88-93)tgfs	p.FL30fs	NOX1_ENST00000372964.1_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000217885.5_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000372960.4_Frame_Shift_Del_p.FL30fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	30					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCATATTTCAGGAAGGCATCCAC	0.377													18	175	---	---	---	---					
