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
ZNF835	90485	broad.mit.edu	37	19	57176525	57176525	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:57176525C>T	ENST00000537055.2	-	2	273	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											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						AGTTTCCTTCCAACTCTGCGC	0.572000													12	30					0	0	0.010729	0	0
ASPM	259266	broad.mit.edu	37	1	197074087	197074087	+	Silent	SNP	T	T	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:197074087T>G	ENST00000367409.4	-	18	4550	c.4294A>C	c.(4294-4296)Aga>Cga	p.R1432R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1432					mitosis	cytoplasm|nucleus	calmodulin binding			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						TTCCATTTTCTGAACATAGAT	0.313000													9	48					0	0	0.004482	0	0
GABRA6	2559	broad.mit.edu	37	5	161128640	161128640	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:161128640C>G	ENST00000523217.1	+	9	1435	c.1193C>G	c.(1192-1194)tCg>tGg	p.S398W	GABRA6_ENST00000274545.5_Missense_Mutation_p.S408W	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	408					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACCACTCTCGCCAGCCTTT	0.468000										TCGA Ovarian(5;0.080)			33	46					0	0	0.009535	0	0
OR8U1	219417	broad.mit.edu	37	11	56143276	56143276	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:56143276G>A	ENST00000302270.1	+	1	177	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ACACACCAATGTACTTCTTTC	0.388000													6	159					0	0	0.004482	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601073	232601073	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:232601073T>A	ENST00000366630.1	-	8	2691	c.2333A>T	c.(2332-2334)gAc>gTc	p.D778V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D778V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	778	Rap-GAP.				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)				TAAAAGGAAGTCCCGGAACAC	0.453000													16	94					0	0	0.006122	0	0
VNN3	55350	broad.mit.edu	37	6	133044097	133044097	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:133044097G>A	ENST00000207771.3	-	8	1543	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000367927.5_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGCCCTAAGCGTGGAGGGTCC	0.488000													7	29					0	0	0.003080	0	0
OR4C6	219432	broad.mit.edu	37	11	55433179	55433179	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:55433179G>T	ENST00000314259.3	+	1	566	c.537G>T	c.(535-537)ttG>ttT	p.L179F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATGTGATTTGTTTCAGTTGT	0.433000													35	60					9.04072e-19	1.27291e-18	0.003271	1	0
CELSR1	9620	broad.mit.edu	37	22	46860009	46860009	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr22:46860009C>T	ENST00000262738.3	-	2	3777	c.3778G>A	c.(3778-3780)Gtg>Atg	p.V1260M	CELSR1_ENST00000395964.1_Missense_Mutation_p.V1260M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1260					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGAAGGTCACGTTCAGGATG	0.637000													13	56					0	0	0.001855	0	0
SLC39A12	221074	broad.mit.edu	37	10	18331726	18331726	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr10:18331726G>T	ENST00000377369.2	+	13	2313	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	SLC39A12_ENST00000539911.1_Silent_p.L546L|SLC39A12_ENST00000377374.4_Silent_p.L643L|SLC39A12_ENST00000377371.3_Silent_p.L679L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	680	Poly-Leu.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTTCTCTCCTGCTCTTGGCTA	0.343000													6	27					4.096e-09	4.94754e-09	0.001168	1	0
GPR182	11318	broad.mit.edu	37	12	57389146	57389146	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:57389146C>A	ENST00000300098.1	+	2	372	c.153C>A	c.(151-153)acC>acA	p.T51T		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	51						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCCAGAGCACCAAGCGCGTGG	0.592000													36	70					2.47316e-13	3.15328e-13	0.003271	1	0
NRG3	10718	broad.mit.edu	37	10	84711230	84711230	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr10:84711230G>A	ENST00000372142.2	+	6	671	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	NRG3_ENST00000404547.1_Missense_Mutation_p.E354K|NRG3_ENST00000404576.2_Missense_Mutation_p.E158K|NRG3_ENST00000537893.1_Missense_Mutation_p.E4K|NRG3_ENST00000372141.2_Missense_Mutation_p.E354K|NRG3_ENST00000556918.1_Missense_Mutation_p.E184K|NRG3_ENST00000545131.1_Missense_Mutation_p.E4K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	354	Poly-Thr.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACAGAGAGTGAAGAAGTTTA	0.403000													9	23					0	0	0.006214	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367750	145367750	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:145367750G>T	ENST00000342960.5	+	83	10381	c.10346G>T	c.(10345-10347)gGa>gTa	p.G3449V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3449										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aaaagaaggggaagaagatca	0.418000													10	47					1.76689e-08	2.09022e-08	0.006214	1	0
PHYKPL	85007	broad.mit.edu	37	5	177642304	177642304	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:177642304A>G	ENST00000308158.5	-	9	1289	c.1055T>C	c.(1054-1056)aTc>aCc	p.I352T	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		GGGATGTTTGATTTTTTGCTG	0.577000													7	31					0	0	0.001984	0	0
USP24	23358	broad.mit.edu	37	1	55590228	55590228	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:55590228C>T	ENST00000294383.6	-	35	4033	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	USP24_ENST00000407756.1_Missense_Mutation_p.R1185Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1345					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGATCAAGCCGTCCTGCAGC	0.428000													7	31					0	0	0.001984	0	0
CD200R1L	344807	broad.mit.edu	37	3	112538705	112538705	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:112538705C>A	ENST00000488794.1	-	7	1243	c.654G>T	c.(652-654)ctG>ctT	p.L218L	CD200R1L_ENST00000398214.1_Silent_p.L239L|CD200R1L_ENST00000448932.1_Silent_p.L218L			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	239	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AAAGAATGATCAGTAAGGACA	0.388000													11	32					1.58986e-06	1.82894e-06	0.008291	1	0
ARL1	400	broad.mit.edu	37	12	101790284	101790284	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:101790284G>A	ENST00000261636.8	-	5	582	c.408C>T	c.(406-408)tcC>tcT	p.S136S	ARL1_ENST00000551688.1_Silent_p.S7S|ARL1_ENST00000539055.1_Silent_p.S90S|ARL1_ENST00000536227.1_Silent_p.S119S|ARL1_ENST00000551828.1_Silent_p.S119S|ARL1_ENST00000551671.1_Silent_p.S136S	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	136					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CCATCTCTGAGGAAGTCATGG	0.413000													15	74					0	0	0.004990	0	0
CASP2	835	broad.mit.edu	37	7	143000948	143000948	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:143000948G>A	ENST00000310447.5	+	9	1280	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	347					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CGAGGAGAGTGATGCCGGTAA	0.502000													6	14					0	0	0.001168	0	0
SLC4A8	9498	broad.mit.edu	37	12	51856190	51856190	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:51856190G>C	ENST00000453097.2	+	10	1415	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	SLC4A8_ENST00000535225.2_Missense_Mutation_p.E347Q|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E347Q|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E347Q|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E427Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	400					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCCTCCAGGAGAGTGGGATCC	0.493000													10	41					0	0	0.008291	0	0
PLG	5340	broad.mit.edu	37	6	161139345	161139345	+	Silent	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:161139345T>A	ENST00000308192.9	+	8	870	c.807T>A	c.(805-807)tcT>tcA	p.S269S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	269					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACCATCTTCTGGTCCCACCT	0.502000													27	52					0	0	0.005443	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750322	167750322	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:167750322G>A	ENST00000470487.1	-	9	1851	c.1162C>T	c.(1162-1164)Cac>Tac	p.H388Y	GOLIM4_ENST00000309027.4_Missense_Mutation_p.H360Y	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	388	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCACGCGCGTGCCCTTCCAGG	0.488000													6	170					0	0	0.001168	0	0
LGR6	59352	broad.mit.edu	37	1	202287145	202287145	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:202287145G>A	ENST00000367278.3	+	18	1803	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	LGR6_ENST00000255432.7_Missense_Mutation_p.V520M|LGR6_ENST00000439764.2_Missense_Mutation_p.V433M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	572						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGGGCCATCGTGTTGCTCTC	0.612000													18	73					0	0	0.004990	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008650	142008650	+	RNA	SNP	A	A	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:142008650A>C	ENST00000390387.3	+	0	170																											AGTCCATTAAATGTGAACAAA	0.393000													14	60					0	0	0.004007	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221831	1221831	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:1221831T>C	ENST00000304460.10	+	12	1773	c.1717T>C	c.(1717-1719)Tcc>Ccc	p.S573P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	573					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATTTCCCAAATCCCAGAAGAT	0.577000													13	99					0	0	0.002450	0	0
GATA4	2626	broad.mit.edu	37	8	11606499	11606499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:11606499C>T	ENST00000335135.4	+	3	1246	c.688C>T	c.(688-690)Cga>Tga	p.R230*	GATA4_ENST00000528712.1_Nonsense_Mutation_p.R24*|GATA4_ENST00000532059.1_Nonsense_Mutation_p.R231*	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	230					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GCTCTGGAGGCGAGATGGGAC	0.567000													18	98					0	0	0.006122	0	0
RAVER1	125950	broad.mit.edu	37	19	10439672	10439672	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:10439672C>T	ENST00000293677.6	-	3	534	c.453G>A	c.(451-453)ctG>ctA	p.L151L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	134	RRM 2.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGGCCACACACAGCAGGGCAT	0.657000													3	6					0	0	0.004672	0	0
OR8K3	219473	broad.mit.edu	37	11	56085854	56085854	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:56085854G>T	ENST00000312711.1	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CTGAGCTGCAGGCACCATTAT	0.433000													32	62					1.88708e-17	2.60112e-17	0.008361	1	0
TOX3	27324	broad.mit.edu	37	16	52497959	52497959	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:52497959C>T	ENST00000219746.9	-	3	579	c.295G>A	c.(295-297)Gga>Aga	p.G99R	TOX3_ENST00000407228.3_Missense_Mutation_p.G94R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	99					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						AATTCACTTCCCTGGGAAGGC	0.532000													10	53					0	0	0.008291	0	0
HPX	3263	broad.mit.edu	37	11	6462124	6462124	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:6462124T>A	ENST00000265983.3	-	1	170	c.70A>T	c.(70-72)Acc>Tcc	p.T24S	HPX_ENST00000525057.1_Intron	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	24	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGAAGAGGGGTGGCAATGGCC	0.572000													9	10					0	0	0.010729	0	0
HUWE1	10075	broad.mit.edu	37	X	53571710	53571710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:53571710C>A	ENST00000342160.3	-	71	11519	c.11062G>T	c.(11062-11064)Gag>Tag	p.E3688*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.E3688*|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3688					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			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						ACCACATTCTCAGCCATGTCA	0.488000													19	45					1.33834e-09	1.62084e-09	0.007413	1	0
ZNF182	7569	broad.mit.edu	37	X	47836869	47836869	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:47836869T>C	ENST00000396965.1	-	7	967	c.617A>G	c.(616-618)tAt>tGt	p.Y206C	ZNF182_ENST00000376943.3_Missense_Mutation_p.Y187C|ZNF182_ENST00000305127.6_Missense_Mutation_p.Y206C	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTATAGCCATAGGGCTTCAT	0.358000													22	35					0	0	0.014323	0	0
GABRQ	55879	broad.mit.edu	37	X	151818215	151818215	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:151818215G>T	ENST00000370306.2	+	6	641	c.621G>T	c.(619-621)acG>acT	p.T207T		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	207						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTTACACGGTTGAAGACA	0.438000													20	68					3.99206e-14	5.22038e-14	0.007413	1	0
OR4M1	441670	broad.mit.edu	37	14	20249415	20249415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:20249415G>T	ENST00000315957.4	+	1	1015	c.934G>T	c.(934-936)Gag>Tag	p.E312*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTGTGAAGAGAAGTGAAA	0.358000													8	16					0.00307968	0.00327216	0.003080	1	0
ZP4	57829	broad.mit.edu	37	1	238051760	238051760	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:238051760T>C	ENST00000366570.4	-	4	609	c.451A>G	c.(451-453)Aga>Gga	p.R151G	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	151	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATGGCAGTCTGTCCCGTGCT	0.478000													22	60					0	0	0.002780	0	0
FAM47B	170062	broad.mit.edu	37	X	34962518	34962518	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:34962518C>A	ENST00000329357.5	+	1	1606	c.1570C>A	c.(1570-1572)Cgg>Agg	p.R524R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	524										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGAATTCTTACGGATAAAATA	0.493000													40	34					5.71845e-15	7.60803e-15	0.005524	1	0
SPTA1	6708	broad.mit.edu	37	1	158646039	158646039	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:158646039G>T	ENST00000368148.3	-	8	1184	c.1004C>A	c.(1003-1005)cCt>cAt	p.P335H	SPTA1_ENST00000368147.3_Missense_Mutation_p.P335H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	335					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCATCTGAAGGATGGGAAAG	0.483000													42	82					3.4345e-17	4.69177e-17	0.011902	1	0
REST	5978	broad.mit.edu	37	4	57796484	57796484	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:57796484A>T	ENST00000309042.7	+	4	1774	c.1460A>T	c.(1459-1461)cAg>cTg	p.Q487L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	487	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TCAGTGATCCAGGTGACTACC	0.378000													7	28					0	0	0.001984	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129095	248129095	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:248129095G>T	ENST00000366480.3	+	1	561	c.462G>T	c.(460-462)aaG>aaT	p.K154N	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGAGCAAGAAGATCTGCTGCC	0.443000													67	121					2.18419e-29	3.20302e-29	0.014410	1	0
GDI1	2664	broad.mit.edu	37	X	153670994	153670994	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:153670994A>C	ENST00000447750.2	+	11	1654	c.1319A>C	c.(1318-1320)gAc>gCc	p.D440A	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	440					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAACAGAACGACGTCTTTGGA	0.557000													23	136					0	0	0.014323	0	0
LYPD2	137797	broad.mit.edu	37	8	143832527	143832527	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:143832527G>T	ENST00000359228.3	-	2	202	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	40	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCAGGTGGCGATGGTGACAC	0.657000													23	150					3.5997e-14	4.73427e-14	0.014323	1	0
A2ML1	144568	broad.mit.edu	37	12	8995922	8995922	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:8995922G>A	ENST00000299698.7	+	12	1621	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	325						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCCGGCCGATGCAAGCCCTGA	0.562000													12	24					0	0	0.010729	0	0
GPR119	139760	broad.mit.edu	37	X	129519241	129519241	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:129519241G>T	ENST00000276218.2	-	1	270	c.181C>A	c.(181-183)Cta>Ata	p.L61I		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	61						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TCTGTGAGTAGGCCAGAGATG	0.567000													89	89					1.09326e-46	1.62924e-46	0.014410	1	0
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	T	A	rs121913444		TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:55259524T>A	ENST00000275493.2	+	21	2759	c.2582T>A	c.(2581-2583)cTg>cAg	p.L861Q	EGFR_ENST00000454757.2_Missense_Mutation_p.L808Q|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L816Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	861	Protein kinase.		L -> Q (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L861Q(53)|p.L861R(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGCCAAACTGCTGGGTGCG	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			96	60					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164700152	164700152	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:164700152C>A	ENST00000264382.3	-	47	5356	c.5294G>T	c.(5293-5295)aGt>aTt	p.S1765I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1765	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCTCGTTTCACTTTTATTTAT	0.333000										HNSCC(35;0.089)			36	9					1.36239e-07	1.59525e-07	0.003271	1	0
HELZ	9931	broad.mit.edu	37	17	65104710	65104710	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:65104710T>C	ENST00000358691.5	-	30	4788	c.4622A>G	c.(4621-4623)cAg>cGg	p.Q1541R	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1542R	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGAAGATGCTGGAGGTGAGG	0.582000													22	62					0	0	0.010504	0	0
LRRC7	57554	broad.mit.edu	37	1	70489004	70489004	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:70489004C>T	ENST00000310961.5	+	18	2060	c.1642C>T	c.(1642-1644)Cca>Tca	p.P548S	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.P543S|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	543						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CATGTGTACTCCATTGCCAGT	0.542000													21	75					0	0	0.014323	0	0
OR2J2	26707	broad.mit.edu	37	6	29142013	29142013	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:29142013A>G	ENST00000377167.2	+	1	703	c.601A>G	c.(601-603)Atg>Gtg	p.M201V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCTGACCCTCATGGTCATGAG	0.483000													14	119					0	0	0.010504	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601074	232601074	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:232601074C>A	ENST00000366630.1	-	8	2690	c.2332G>T	c.(2332-2334)Gac>Tac	p.D778Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D778Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	778	Rap-GAP.				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)				AAAAGGAAGTCCCGGAACACG	0.453000													16	92					1.67942e-08	2.00221e-08	0.006122	1	0
MUC17	140453	broad.mit.edu	37	7	100686420	100686420	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:100686420C>G	ENST00000306151.4	+	3	11787	c.11723C>G	c.(11722-11724)cCt>cGt	p.P3908R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3908						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTTTACCCCTTCTACTGAC	0.478000													16	116					0	0	0.006122	0	0
TMEM168	64418	broad.mit.edu	37	7	112424094	112424094	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:112424094T>C	ENST00000312814.5	-	2	1347	c.787A>G	c.(787-789)Aga>Gga	p.R263G	TMEM168_ENST00000454074.1_Missense_Mutation_p.R263G	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	263						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GAAAGTCTTCTGCAAATTCTT	0.353000													29	129					0	0	0.006320	0	0
PSD	5662	broad.mit.edu	37	10	104174961	104174961	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr10:104174961G>A	ENST00000020673.5	-	4	1309	c.783C>T	c.(781-783)ccC>ccT	p.P261P	PSD_ENST00000406432.1_Silent_p.P261P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	261					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTGGAGATGGGGGGGCCTGCT	0.622000													27	13					0	0	0.006320	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123696	47123696	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:47123696G>C	ENST00000290341.3	+	14	1936	c.1602G>C	c.(1600-1602)caG>caC	p.Q534H	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q395H	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	534	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGAACGACCAGGTCATCGTGA	0.557000													17	55					0	0	0.004990	0	0
FANCF	2188	broad.mit.edu	37	11	22646799	22646799	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:22646799G>A	ENST00000327470.3	-	1	588	c.558C>T	c.(556-558)gcC>gcT	p.A186A		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	186					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TGAGAAACCTGGCGGGACGCT	0.622000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	42					0	0	0.014410	0	0
ENSA	2029	broad.mit.edu	37	1	150599834	150599834	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:150599834T>C	ENST00000503345.1	-	2	402	c.292A>G	c.(292-294)Aga>Gga	p.R98G	ENSA_ENST00000369009.3_Intron|ENSA_ENST00000369014.5_Intron|ENSA_ENST00000369016.4_Intron|ENSA_ENST00000361631.5_Intron|ENSA_ENST00000362052.7_Missense_Mutation_p.R98G|ENSA_ENST00000356527.5_Intron|ENSA_ENST00000339643.5_Intron|ENSA_ENST00000271690.8_Intron|ENSA_ENST00000513281.1_Intron|ENSA_ENST00000361532.5_Intron|ENSA_ENST00000354702.3_Intron|ENSA_ENST00000503241.1_Intron			O43768	ENSA_HUMAN	endosulfine alpha	0					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|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;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCTACTTCTGTTCAACAAC	0.383000													47	191					0	0	0.013114	0	0
TMEM204	79652	broad.mit.edu	37	16	1584550	1584550	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:1584550G>A	ENST00000566264.1	+	1	977	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	IFT140_ENST00000426508.2_Intron|TMEM204_ENST00000253934.5_Missense_Mutation_p.V92I	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	92					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CCGAGGCACCGTCAAACGTAA	0.667000													22	66					0	0	0.010504	0	0
LMO4	8543	broad.mit.edu	37	1	87805833	87805833	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:87805833T>C	ENST00000370544.5	+	4	1217	c.437T>C	c.(436-438)aTc>aCc	p.I146T	LMO4_ENST00000370542.1_Missense_Mutation_p.I146T|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	146	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		ACAGCTCTCATCAATGGCCAT	0.438000													18	58					0	0	0.008871	0	0
FHDC1	85462	broad.mit.edu	37	4	153897411	153897411	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:153897411A>T	ENST00000511601.1	+	12	3156	c.2968A>T	c.(2968-2970)Agg>Tgg	p.R990W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R990W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	990					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CAAACCACTCAGGAACCTCCC	0.652000													21	7					0	0	0.008871	0	0
STIM2	57620	broad.mit.edu	37	4	27000912	27000912	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:27000912C>G	ENST00000382009.3	+	5	1096	c.829C>G	c.(829-831)Cac>Gac	p.H277D	STIM2_ENST00000465503.1_Missense_Mutation_p.H190D|STIM2_ENST00000237364.5_Missense_Mutation_p.H277D|STIM2_ENST00000467087.1_Missense_Mutation_p.H190D|STIM2_ENST00000467011.1_Missense_Mutation_p.H190D|STIM2_ENST00000412829.2_Missense_Mutation_p.H277D	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	190					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGACCGGAGTCACAGACAAAA	0.368000													3	19					0	0	0.009096	0	0
SEC24B	10427	broad.mit.edu	37	4	110415918	110415918	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:110415918C>G	ENST00000265175.5	+	6	1449	c.1394C>G	c.(1393-1395)aCa>aGa	p.T465R	SEC24B_ENST00000504968.2_Missense_Mutation_p.T496R|SEC24B_ENST00000399100.2_Missense_Mutation_p.T430R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	465					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGCTATCCAACACTTCAGCCT	0.493000													19	38					0	0	0.006122	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978901	41978901	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:41978901G>A	ENST00000372584.1	-	7	7005	c.5991C>T	c.(5989-5991)tgC>tgT	p.C1997C	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Silent_p.C1997C|HIVEP3_ENST00000429157.2_Silent_p.C1997C|HIVEP3_ENST00000247584.5_Silent_p.C1997C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1997					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCCGGGGAGCATCGCTGGG	0.637000													29	54					0	0	0.005443	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282872	154282872	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:154282872G>T	ENST00000369498.3	+	5	749	c.495G>T	c.(493-495)gtG>gtT	p.V165V	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	165						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTTTTCAGGTGGTGTCATTTG	0.373000													29	96					2.47511e-08	2.9205e-08	0.008361	1	0
RAP2A	5911	broad.mit.edu	37	13	98086961	98086961	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr13:98086961C>T	ENST00000245304.4	+	1	486	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	79					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			AGGGCTTCATCCTCGTCTACA	0.632000													11	49					0	0	0.008291	0	0
OR10G2	26534	broad.mit.edu	37	14	22102534	22102534	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:22102534G>T	ENST00000542433.1	-	1	562	c.465C>A	c.(463-465)gtC>gtA	p.V155V		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGGAGCCGGCGACCCAAGCTC	0.562000													33	33					2.85442e-18	3.97023e-18	0.010818	1	0
NES	10763	broad.mit.edu	37	1	156639370	156639370	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:156639370C>T	ENST00000368223.3	-	4	4742	c.4610G>A	c.(4609-4611)gGc>gAc	p.G1537D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1537	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGACCCTGGCCATTAACACC	0.582000													26	69					0	0	0.003954	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225469	26225469	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:26225469C>A	ENST00000360408.1	+	1	87	c.87C>A	c.(85-87)agC>agA	p.S29R		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	29					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CTCGCAAGAGCGCTCCGGCCA	0.607000													17	71					3.45872e-05	3.86266e-05	0.004007	1	0
OR4A47	403253	broad.mit.edu	37	11	48510625	48510625	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:48510625C>G	ENST00000446524.1	+	1	357	c.281C>G	c.(280-282)tCt>tGt	p.S94C		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCCTTCCAATCTTGCATGGCC	0.438000													17	120					0	0	0.007413	0	0
ETS2	2114	broad.mit.edu	37	21	40191522	40191522	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr21:40191522C>T	ENST00000360214.3	+	9	1367	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	ETS2_ENST00000360938.3_Silent_p.L303L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	303					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GTCGTCCTTGCTGGATGTGCA	0.557000													16	17					0	0	0.003163	0	0
PRDM14	63978	broad.mit.edu	37	8	70980575	70980575	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:70980575C>A	ENST00000276594.2	-	4	1003	c.802G>T	c.(802-804)Gtg>Ttg	p.V268L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	268	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTGCAGAACACACCAAAATGT	0.478000													14	16					0.000151284	0.000165727	0.001855	1	0
PRDM9	56979	broad.mit.edu	37	5	23527452	23527452	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:23527452A>T	ENST00000296682.3	+	11	2437	c.2255A>T	c.(2254-2256)gAg>gTg	p.E752V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	752					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCTGCAGGGAGTGTGGGCGG	0.592000										HNSCC(3;0.000094)			100	96					0	0	0.014410	0	0
ARID4B	51742	broad.mit.edu	37	1	235359370	235359370	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:235359370C>A	ENST00000264183.3	-	18	2399	c.1902G>T	c.(1900-1902)aaG>aaT	p.K634N	ARID4B_ENST00000349213.3_Missense_Mutation_p.K548N|ARID4B_ENST00000366603.2_Missense_Mutation_p.K634N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GATGTTTTATCTTTGGCACAT	0.269000													4	18					0.00909568	0.00946693	0.009096	1	0
NUP205	23165	broad.mit.edu	37	7	135258468	135258468	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:135258468C>G	ENST00000285968.6	+	3	264	c.238C>G	c.(238-240)Caa>Gaa	p.Q80E	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	80					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CATTCAGGGTCAACAGGGAAC	0.393000													9	26					0	0	0.004482	0	0
ZNF160	90338	broad.mit.edu	37	19	53572747	53572747	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:53572747C>T	ENST00000601421.1	-	3	1808	c.932G>A	c.(931-933)gGa>gAa	p.G311E	ZNF160_ENST00000429604.1_Missense_Mutation_p.G347E|ZNF160_ENST00000599056.1_Missense_Mutation_p.G347E|ZNF160_ENST00000418871.1_Missense_Mutation_p.G347E			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	347					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AAAGGCTTTTCCACACTCATT	0.403000													15	51					0	0	0.003163	0	0
PCSK1	5122	broad.mit.edu	37	5	95728928	95728928	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:95728928G>T	ENST00000311106.3	-	14	2276	c.2039C>A	c.(2038-2040)cCg>cAg	p.P680Q	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.P633Q	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	680					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGCTTTGGCGGTGAGTTTTT	0.532000													38	67					8.73648e-17	1.17942e-16	0.004289	1	0
ITGA2	3673	broad.mit.edu	37	5	52360854	52360854	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:52360854T>A	ENST00000296585.5	+	14	1858	c.1715T>A	c.(1714-1716)gTg>gAg	p.V572E		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	572					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTAATGATGTGATTGTTGGT	0.428000													39	49					0	0	0.005524	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144381787	144381787	+	Silent	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:144381787T>A	ENST00000295095.6	+	12	1256	c.1089T>A	c.(1087-1089)ccT>ccA	p.P363P		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	363	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GGGAGCTGCCTGAGCCGCTCT	0.507000													20	16					0	0	0.010504	0	0
CLP1	10978	broad.mit.edu	37	11	57428602	57428602	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:57428602G>A	ENST00000533682.1	+	3	1697	c.972G>A	c.(970-972)gtG>gtA	p.V324V	CLP1_ENST00000302731.4_Silent_p.V260V|CLP1_ENST00000529430.1_Silent_p.V335V|CLP1_ENST00000525602.1_Silent_p.V324V			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	324					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TTTCAGATGTGAAAATCTACA	0.468000													32	152					0	0	0.003271	0	0
RPL4	6124	broad.mit.edu	37	15	66795792	66795792	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr15:66795792C>A	ENST00000307961.6	-	2	171	c.79G>T	c.(79-81)Gta>Tta	p.V27L	RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	27					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCCTTGAATACAGCAGGCAAA	0.443000													13	21					6.81908e-15	9.04612e-15	0.002450	1	0
INSM1	3642	broad.mit.edu	37	20	20350422	20350422	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr20:20350422T>C	ENST00000310227.1	+	1	1658	c.1511T>C	c.(1510-1512)gTg>gCg	p.V504A		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	504					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CTCCTGCAGGTGCCCGTGCGC	0.657000													5	24					0	0	0.000602	0	0
FLNC	2318	broad.mit.edu	37	7	128494178	128494178	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:128494178A>T	ENST00000325888.8	+	40	6896	c.6635A>T	c.(6634-6636)cAg>cTg	p.Q2212L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.Q2179L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2212	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGTCCACCCAGGTCGGCGGG	0.692000													13	16					0	0	0.001855	0	0
GALNTL5	168391	broad.mit.edu	37	7	151680215	151680215	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:151680215G>A	ENST00000392800.2	+	4	767	c.513G>A	c.(511-513)ttG>ttA	p.L171L	GALNTL5_ENST00000431418.2_Silent_p.L171L	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	171	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAATTATTTTGGTAGATGACA	0.388000													28	54					0	0	0.006320	0	0
ITGA4	3676	broad.mit.edu	37	2	182387061	182387061	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:182387061T>C	ENST00000397033.2	+	18	2496	c.2066T>C	c.(2065-2067)tTa>tCa	p.L689S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	689					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTAAGATTTTAGAGCTGGTA	0.338000													25	15					0	0	0.004656	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475866	140475866	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:140475866C>T	ENST00000194155.4	+	1	1640	c.1492C>T	c.(1492-1494)Ccg>Tcg	p.P498S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCCAGGACCCGCACCTGCC	0.672000													32	182					0	0	0.006230	0	0
PI15	51050	broad.mit.edu	37	8	75756296	75756296	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:75756296G>A	ENST00000260113.2	+	3	533	c.354G>A	c.(352-354)ctG>ctA	p.L118L	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.L118L|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	118						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTTACTTACTGAGATTTTTGG	0.423000													7	40					0	0	0.003080	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857071	19857071	+	RNA	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:19857071C>G	ENST00000548109.1	+	0	72																											CACCAACCAGCTGAAAGTAAA	0.343000													7	44					0	0	0.001984	0	0
PDIA5	10954	broad.mit.edu	37	3	122849399	122849399	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:122849399C>T	ENST00000316218.7	+	11	941	c.846C>T	c.(844-846)acC>acT	p.T282T		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	282	Thioredoxin 2.				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)		ATCACCTGACCGATGAAGACT	0.582000													12	62					0	0	0.010729	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526514	97526514	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:97526514G>C	ENST00000305476.5	-	15	2483	c.2351C>G	c.(2350-2352)tCa>tGa	p.S784*		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	784					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						ATTGGCATTTGAGTTCCGCCC	0.667000													36	73					0	0	0.005524	0	0
FGFR1	2260	broad.mit.edu	37	8	38314957	38314957	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:38314957C>A	ENST00000447712.2	-	2	949	c.8G>T	c.(7-9)aGc>aTc	p.S3I	FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397091.5_Missense_Mutation_p.S3I|FGFR1_ENST00000397113.2_Missense_Mutation_p.S3I|FGFR1_ENST00000397108.4_Missense_Mutation_p.S3I|FGFR1_ENST00000425967.3_Missense_Mutation_p.S36I|FGFR1_ENST00000326324.6_Missense_Mutation_p.S3I|FGFR1_ENST00000341462.5_Missense_Mutation_p.S3I|FGFR1_ENST00000532791.1_Missense_Mutation_p.S3I|FGFR1_ENST00000397103.1_Missense_Mutation_p.S3I|FGFR1_ENST00000356207.5_Missense_Mutation_p.S3I	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	3					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GCACTTCCAGCTCCACATCCC	0.572000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						24	13					1.64293e-13	2.10058e-13	0.003330	1	0
DNAH5	1767	broad.mit.edu	37	5	13714584	13714584	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:13714584C>A	ENST00000265104.4	-	75	13159	c.13055G>T	c.(13054-13056)cGg>cTg	p.R4352L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4352					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACCGCCTCCCGGGTCTCATC	0.562000									Kartagener syndrome				41	83					9.85521e-28	1.44062e-27	0.006230	1	0
OR10W1	81341	broad.mit.edu	37	11	58034596	58034596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:58034596G>T	ENST00000395079.2	-	1	1136	c.735C>A	c.(733-735)tgC>tgA	p.C245*		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C245*(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGAAGGCACAGCAGCCATACT	0.592000													17	64					4.14922e-12	5.20353e-12	0.004007	1	0
HGFAC	3083	broad.mit.edu	37	4	3447936	3447936	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:3447936G>C	ENST00000382774.3	+	10	1385	c.1270G>C	c.(1270-1272)Gcc>Ccc	p.A424P	HGFAC_ENST00000511533.1_Missense_Mutation_p.A431P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	424	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGGCTGGCCGCCATCTACAT	0.697000													6	9					0	0	0.001168	0	0
FAM211B	388886	broad.mit.edu	37	22	24981999	24981999	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr22:24981999C>T	ENST00000318753.8	-	4	826	c.803G>A	c.(802-804)aGc>aAc	p.S268N	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	268																	GGTGCGCTGGCTCAGCCGCCG	0.687000													16	66					0	0	0.003163	0	0
MPPE1	65258	broad.mit.edu	37	18	11889438	11889438	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr18:11889438G>A	ENST00000588072.1	-	5	1663	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	MPPE1_ENST00000399978.2_Missense_Mutation_p.H148Y|MPPE1_ENST00000344987.7_Missense_Mutation_p.H148Y|MPPE1_ENST00000317235.7_Missense_Mutation_p.H148Y|MPPE1_ENST00000309976.9_Missense_Mutation_p.H148Y	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	148					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGCTGTACATGACTTGGGTGT	0.483000													13	32					0	0	0.013537	0	0
ZNF678	339500	broad.mit.edu	37	1	227843036	227843036	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:227843036C>G	ENST00000343776.4	+	4	1430	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.S417*			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	417					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACTCAATTCTCAAACCTCACT	0.383000													5	37					0	0	0.000602	0	0
PKNOX1	5316	broad.mit.edu	37	21	44438242	44438242	+	Splice_Site	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr21:44438242G>T	ENST00000291547.5	+	7	833		c.e7-1		PKNOX1_ENST00000432907.2_Splice_Site	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1								sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TCCCTTTCGAGGTGGCACAGT	0.423000													25	16					5.35047e-06	6.06387e-06	0.003330	1	0
GRIN2A	2903	broad.mit.edu	37	16	10273919	10273919	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:10273919G>A	ENST00000396573.2	-	3	659	c.350C>T	c.(349-351)tCc>tTc	p.S117F	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S117F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S117F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S117F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S117F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	117					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGTGGGAGGAGATAAAATC	0.607000													4	60					0	0	0.009096	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978898	41978898	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:41978898G>A	ENST00000372584.1	-	7	7008	c.5994C>T	c.(5992-5994)tcC>tcT	p.S1998S	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Silent_p.S1998S|HIVEP3_ENST00000429157.2_Silent_p.S1998S|HIVEP3_ENST00000247584.5_Silent_p.S1998S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1998					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGGGCCGGGGAGCATCGCT	0.627000													27	52					0	0	0.003954	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376278	117376278	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:117376278C>A	ENST00000321322.6	-	9	2134	c.2133G>T	c.(2131-2133)atG>atT	p.M711I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.M441I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	651	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGGGAGCTCATGAATTCCT	0.602000													13	42					5.50884e-06	6.22797e-06	0.013537	1	0
CACNG6	59285	broad.mit.edu	37	19	54502940	54502940	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:54502940C>A	ENST00000252729.2	+	3	1049	c.459C>A	c.(457-459)gcC>gcA	p.A153A	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	153						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CAGTCATGGCCTTGGGGTGCC	0.567000													110	127					3.30846e-59	4.94652e-59	0.014410	1	0
DGKD	8527	broad.mit.edu	37	2	234359623	234359623	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:234359623T>G	ENST00000264057.2	+	17	2106	c.2094T>G	c.(2092-2094)agT>agG	p.S698R	DGKD_ENST00000409813.3_Missense_Mutation_p.S654R	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	698					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.S698S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCCTAGGCAGTTCTGCTTCCC	0.567000													44	60					0	0	0.009718	0	0
NBPF14	25832	broad.mit.edu	37	1	148017573	148017573	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:148017573G>A	ENST00000369219.1	-	6	726	c.710C>T	c.(709-711)tCg>tTg	p.S237L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	237	NBPF 2.					cytoplasm				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)					AGACTTGTACGAGGCCAACAT	0.478000													28	494					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152738009	152738009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:152738009C>A	ENST00000367255.5	-	41	6164	c.5563G>T	c.(5563-5565)Gag>Tag	p.E1855*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E1862*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E1892*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E1855*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E1862*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1855					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			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)		TGGCTGGCCTCCTCAAACAGC	0.602000										HNSCC(10;0.0054)			9	60					1.76689e-08	2.09022e-08	0.006214	1	0
PRDM2	7799	broad.mit.edu	37	1	14109132	14109132	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:14109132G>C	ENST00000235372.7	+	8	5698	c.4842G>C	c.(4840-4842)agG>agC	p.R1614S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1413S|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1614S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1413S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1614						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCACGTGAGGGTACAGAAAA	0.458000													12	60					0	0	0.013537	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896082	43896082	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:43896082C>G	ENST00000389420.3	-	4	739	c.740G>C	c.(739-741)aGa>aCa	p.R247T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R247T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	247						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCTGGAATGTCTTCTTTCATC	0.338000													12	42					0	0	0.010729	0	0
PKD1L1	168507	broad.mit.edu	37	7	47842862	47842862	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:47842862C>A	ENST00000289672.2	-	53	7958	c.7908G>T	c.(7906-7908)atG>atT	p.M2636I	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2636					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCAGGATGCCATTGTGTTTT	0.478000													15	43					0.00316338	0.00335333	0.003163	1	0
ZNF212	7988	broad.mit.edu	37	7	148951158	148951158	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:148951158C>G	ENST00000335870.2	+	5	1268	c.1140C>G	c.(1138-1140)tgC>tgG	p.C380W		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GCTTCAGCTGCAAGGTGAGCC	0.612000													9	9					0	0	0.004482	0	0
PHF21A	51317	broad.mit.edu	37	11	45967443	45967443	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:45967443G>A	ENST00000257821.4	-	14	2023	c.1400C>T	c.(1399-1401)aCt>aTt	p.T467I	PHF21A_ENST00000418153.2_Missense_Mutation_p.T466I|PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000527753.1_Intron	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	466					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGCAGGGAAAGTGAATGTGGT	0.507000													7	64					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9065356	9065356	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:9065356G>C	ENST00000397910.4	-	3	22293	c.22090C>G	c.(22090-22092)Cac>Gac	p.H7364D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7366	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTCTGAGTGTGGCAATCTC	0.507000													10	25					0	0	0.006214	0	0
PREX1	57580	broad.mit.edu	37	20	47317347	47317347	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr20:47317347C>A	ENST00000396220.1	-	7	883	c.861G>T	c.(859-861)caG>caT	p.Q287H	PREX1_ENST00000371941.3_Missense_Mutation_p.Q287H			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	287	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCCCTTTCCTGGATGTTGC	0.562000													41	109					2.95478e-19	4.18593e-19	0.008740	1	0
NRXN2	9379	broad.mit.edu	37	11	64418777	64418777	+	Silent	SNP	C	C	A	rs116802246	by1000genomes	TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:64418777C>A	ENST00000265459.6	-	14	3329	c.2868G>T	c.(2866-2868)ctG>ctT	p.L956L	NRXN2_ENST00000409571.1_Silent_p.L949L|NRXN2_ENST00000377551.1_Silent_p.L956L|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Silent_p.L916L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	956	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCGAGTTGAACAGAAGAAGCC	0.592000											OREG0004037|OREG0021057	type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	40					6.49762e-13	8.19343e-13	0.006122	1	0
ANGEL1	23357	broad.mit.edu	37	14	77255719	77255719	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:77255719T>C	ENST00000251089.2	-	10	1977	c.1865A>G	c.(1864-1866)tAt>tGt	p.Y622C	ANGEL1_ENST00000557179.1_Missense_Mutation_p.Y187C	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	622										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCATCTCGATACAGCCTGTG	0.557000													40	24					0	0	0.006230	0	0
ZNF534	147658	broad.mit.edu	37	19	52938390	52938390	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:52938390T>C	ENST00000332323.6	+	3	299	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R	ZNF534_ENST00000301085.4_Missense_Mutation_p.W67R|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.W67R	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	80	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GAGAGATCCCTGGACTCTGCA	0.463000													8	20					0	0	0.003080	0	0
HSPA8	3312	broad.mit.edu	37	11	122930391	122930391	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:122930391C>T	ENST00000534624.1	-	5	1186	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	HSPA8_ENST00000532636.1_Missense_Mutation_p.E304K|HSPA8_ENST00000533540.1_Missense_Mutation_p.E158K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E68K|HSPA8_ENST00000227378.3_Missense_Mutation_p.E304K|HSPA8_ENST00000526110.1_Missense_Mutation_p.E285K|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.E304K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	304	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCATTCAGTTCTTCAAATCGG	0.488000													13	51					0	0	0.013537	0	0
EHD3	30845	broad.mit.edu	37	2	31489255	31489255	+	Silent	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:31489255A>T	ENST00000322054.5	+	6	1578	c.1293A>T	c.(1291-1293)ggA>ggT	p.G431G	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	431					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGGGGGCTGGAGAAGGTATCG	0.627000													15	24					0	0	0.003163	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799084	57799084	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:57799084G>T	ENST00000302622.3	+	1	683	c.660G>T	c.(658-660)gtG>gtT	p.V220V	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCATTGCTGTGTCCTATGGCA	0.562000													26	80					7.92952e-12	9.9173e-12	0.003954	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298677	125298677	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:125298677G>T	ENST00000538699.1	-	2	1311	c.1231C>A	c.(1231-1233)Ctc>Atc	p.L411I	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.L411I	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	411										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						TCTTGGTTGAGCCAGCCTCTG	0.612000													31	106					1.62565e-12	2.04431e-12	0.012213	1	0
FUCA1	2517	broad.mit.edu	37	1	24172269	24172269	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:24172269T>A	ENST00000374479.3	-	8	1344	c.1337A>T	c.(1336-1338)cAg>cTg	p.Q446L		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	446					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GGGTGGCAACTGGGGTAGAGA	0.463000													4	87					0	0	0.009096	0	0
NPAP1	23742	broad.mit.edu	37	15	24923368	24923368	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr15:24923368C>A	ENST00000329468.2	+	1	2828	c.2354C>A	c.(2353-2355)tCt>tAt	p.S785Y		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGAAAACCTCTCTCCCCAGT	0.547000													65	66					3.36121e-32	4.97675e-32	0.014410	1	0
KLF17	128209	broad.mit.edu	37	1	44596220	44596220	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:44596220C>T	ENST00000372299.3	+	3	1020	c.962C>T	c.(961-963)tCa>tTa	p.S321L	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	321					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAAAGTTGTTCATGGTCTTTC	0.463000													44	62					0	0	0.009718	0	0
HEPHL1	341208	broad.mit.edu	37	11	93834393	93834393	+	Missense_Mutation	SNP	G	G	A	rs142611571	by1000genomes	TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:93834393G>A	ENST00000315765.9	+	14	2475	c.2467G>A	c.(2467-2469)Gtc>Atc	p.V823I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	823	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGGCAACACCGTCCTGATCAT	0.448000													20	86					0	0	0.010504	0	0
OR4A47	403253	broad.mit.edu	37	11	48510902	48510902	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:48510902C>T	ENST00000446524.1	+	1	634	c.558C>T	c.(556-558)gtC>gtT	p.V186V		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGAAACTGGTCTGCACTGACA	0.433000													22	125					0	0	0.002780	0	0
CENPF	1063	broad.mit.edu	37	1	214818194	214818194	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:214818194G>C	ENST00000366955.3	+	13	5449	c.5281G>C	c.(5281-5283)Gat>Cat	p.D1761H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1857					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGTACCTATGGATTTCCTGGG	0.408000													13	39					0	0	0.002450	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687694	27687694	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr10:27687694C>G	ENST00000438700.3	-	4	1950	c.1833G>C	c.(1831-1833)ttG>ttC	p.L611F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	611					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTATGATGTACAAAACATATA	0.368000													5	26					0	0	0.000602	0	0
CACNA1F	778	broad.mit.edu	37	X	49068380	49068380	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:49068380G>T	ENST00000376265.2	-	35	4172	c.4111C>A	c.(4111-4113)Cag>Aag	p.Q1371K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1306K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1360K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1371					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGCACAGCCTGTGGAAAGGTC	0.562000													13	42					2.27111e-07	2.64579e-07	0.013537	1	0
RRM2	6241	broad.mit.edu	37	2	10263558	10263558	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:10263558G>A	ENST00000360566.2	+	3	690	c.399G>A	c.(397-399)ctG>ctA	p.L133L	RRM2_ENST00000304567.5_Silent_p.L73L	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	73					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AGCCGCTGCTGAGAGAAAACC	0.517000													14	49					0	0	0.002450	0	0
IL9R	3581	broad.mit.edu	37	X	155235830	155235830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:155235830C>A	ENST00000424344.3	+	8	1168	c.801C>A	c.(799-801)taC>taA	p.Y267*	IL9R_ENST00000244174.5_Nonsense_Mutation_p.Y288*|IL9R_ENST00000540897.1_Nonsense_Mutation_p.Y313*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.Y323*|IL9R_ENST00000494962.1_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	288					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					GCCCGACCTACCTCCTGTTCA	0.582000													31	31					1.36615e-20	1.96571e-20	0.013726	1	0
TRIM37	4591	broad.mit.edu	37	17	57109262	57109262	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:57109262G>A	ENST00000376149.3	-	18	2386	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	TRIM37_ENST00000262294.7_Missense_Mutation_p.P648L|TRIM37_ENST00000393065.2_Missense_Mutation_p.P614L|TRIM37_ENST00000393066.3_Missense_Mutation_p.P648L			O94972	TRI37_HUMAN	tripartite motif containing 37	648						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACCTGTGGGCTGCAGAAG	0.373000									Mulibrey Nanism				18	89					0	0	0.004990	0	0
DYTN	391475	broad.mit.edu	37	2	207564892	207564892	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:207564892C>A	ENST00000452335.2	-	6	648	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	178						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGCGGGTGGCACTTTCCACA	0.498000													6	51					8.12818e-05	8.92545e-05	0.001984	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307243	39307243	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:39307243A>T	ENST00000541347.1	-	2	997	c.758T>A	c.(757-759)cTg>cAg	p.L253Q	CX3CR1_ENST00000358309.3_Missense_Mutation_p.L285Q|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L253Q|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L253Q	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	253					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAGCGTCTCCAGGAAAATCAT	0.468000													37	23					0	0	0.005524	0	0
NEDD9	4739	broad.mit.edu	37	6	11190595	11190595	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:11190595T>A	ENST00000379446.5	-	5	1673	c.1507A>T	c.(1507-1509)Agc>Tgc	p.S503C	NEDD9_ENST00000504387.1_Missense_Mutation_p.S503C|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	503					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AAGTCATGGCTGGTTTGACTC	0.517000													16	59					0	0	0.003163	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768217	127768217	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:127768217G>A	ENST00000483725.3	-	5	1583	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	416							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)		ACTGCTCTCTGCTACTGAGGA	0.418000													8	42					0	0	0.003080	0	0
VAMP7	6845	broad.mit.edu	37	X	155119210	155119210	+	Splice_Site	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:155119210G>A	ENST00000460621.1	+	2	161	c.81_splice	c.e2+1	p.E27_splice	VAMP7_ENST00000262640.6_Silent_p.E27E|VAMP7_ENST00000286448.6_Silent_p.E27E|VAMP7_ENST00000479687.1_3'UTR			P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	27	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	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)					ACTTCCTGGAGGTGACAGAGC	0.458000													12	60					0	0	0.010729	0	0
PRPF19	27339	broad.mit.edu	37	11	60658701	60658701	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:60658701C>G	ENST00000227524.4	-	16	1657	c.1452G>C	c.(1450-1452)ggG>ggC	p.G484G		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	484					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGGCGTGATGCCCGAAGGCCA	0.542000													15	22					0	0	0.004007	0	0
ITIH6	347365	broad.mit.edu	37	X	54800519	54800519	+	Nonsense_Mutation	SNP	C	C	A	rs145132163	by1000genomes	TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:54800519C>A	ENST00000218436.6	-	6	927	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	300	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GTTACCTGTTCCATCTTGGTA	0.463000													4	15					0.00909568	0.00946693	0.009096	1	0
ZFP14	57677	broad.mit.edu	37	19	36831589	36831589	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:36831589C>T	ENST00000270001.7	-	5	1254	c.1139G>A	c.(1138-1140)aGa>aAa	p.R380K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAGTTGTTGTCTTAATCTAAA	0.373000													21	35					0	0	0.012319	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764374	109764374	+	RNA	SNP	T	T	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:109764374T>G	ENST00000602699.1	+	0	835					NR_002718.2																						TGCAGGAAGATGGTCCGCTTC	0.453000													13	48					0	0	0.001855	0	0
SYTL4	94121	broad.mit.edu	37	X	99956569	99956569	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:99956569C>A	ENST00000372981.1	-	3	397	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SYTL4_ENST00000455616.1_Missense_Mutation_p.G71C|SYTL4_ENST00000372989.1_Missense_Mutation_p.G71C|SYTL4_ENST00000454200.2_Missense_Mutation_p.G71C|SYTL4_ENST00000263033.5_Missense_Mutation_p.G71C|SYTL4_ENST00000276141.6_Missense_Mutation_p.G71C			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	71	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCAAACGGCCCAGGCTCTCC	0.542000													28	51					1.5548e-18	2.16916e-18	0.005443	1	0
TRPC3	7222	broad.mit.edu	37	4	122835998	122835998	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:122835998C>T	ENST00000264811.5	-	3	1477	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Silent_p.V426V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	341					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.V353V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCACGACCAGCACAACGAGAC	0.542000													8	14					0	0	0.006214	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207197	135207197	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:135207197G>T	ENST00000274513.5	+	5	641	c.469G>T	c.(469-471)Gca>Tca	p.A157S	SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000420621.1_Missense_Mutation_p.A157S|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.A103S			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	157					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGAGCAGCCAGCATACCAGGG	0.612000													21	67					5.35356e-11	6.64131e-11	0.002780	1	0
AGAP3	116988	broad.mit.edu	37	7	150784108	150784108	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:150784108G>C	ENST00000397238.2	+	1	280	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000479901.1_Missense_Mutation_p.E94Q|AGAP3_ENST00000473312.1_Missense_Mutation_p.E94Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	58	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGAGCGCATCGAGGATTTGGC	0.662000													6	16					0	0	0.001168	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475553	157475553	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:157475553G>T	ENST00000389413.3	-	12	1881	c.1778C>A	c.(1777-1779)tCc>tAc	p.S593Y	PTPRN2_ENST00000389418.4_Missense_Mutation_p.S622Y|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S584Y|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S605Y|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S645Y	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	622						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		GCAGGCGAGGGAGACCAGGGT	0.597000													32	39					6.04164e-23	8.74799e-23	0.010818	1	0
SLC9A7	84679	broad.mit.edu	37	X	46618393	46618393	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:46618393C>T	ENST00000328306.4	-	1	97	c.72G>A	c.(70-72)ctG>ctA	p.L24L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	24					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						gcagcggcagcagcagcagcc	0.796000													6	6					0	0	0.001168	0	0
TRPC4	7223	broad.mit.edu	37	13	38211107	38211107	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr13:38211107C>T	ENST00000379705.3	-	11	3724	c.2867G>A	c.(2866-2868)aGt>aAt	p.S956N	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.S815N|TRPC4_ENST00000338947.5_Missense_Mutation_p.S783N|TRPC4_ENST00000379679.1_Missense_Mutation_p.S783N|TRPC4_ENST00000355779.2_Missense_Mutation_p.S815N|TRPC4_ENST00000379681.3_Missense_Mutation_p.S961N|TRPC4_ENST00000379673.2_Missense_Mutation_p.S807N|TRPC4_ENST00000358477.2_Missense_Mutation_p.S872N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	956	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATAGTCTATACTAGAGTCCTC	0.438000													14	22					0	0	0.001855	0	0
DHX37	57647	broad.mit.edu	37	12	125449154	125449154	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:125449154C>G	ENST00000308736.2	-	15	1929	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	DHX37_ENST00000544745.1_Missense_Mutation_p.E398Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	611	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CGAGTCCCCTCCGGTGGAGGC	0.542000													5	65					0	0	0.000602	0	0
PRR23C	389152	broad.mit.edu	37	3	138762829	138762829	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:138762829G>A	ENST00000413199.1	-	1	905	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	PRR23C_ENST00000502927.2_Missense_Mutation_p.R212C|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	212	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AAGATGGGGCGTGGAGAGCGT	0.647000													10	11					0	0	0.006214	0	0
ODF3L2	284451	broad.mit.edu	37	19	463978	463978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:463978C>A	ENST00000315489.4	-	4	971	c.736G>T	c.(736-738)Gag>Tag	p.E246*	ODF3L2_ENST00000382696.3_Nonsense_Mutation_p.E210*	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	246										large_intestine(1)|lung(2)	3						GTGACCTGCTCTGGGCAGTGG	0.716000													10	13					2.17888e-05	2.44524e-05	0.006214	1	0
ALPI	248	broad.mit.edu	37	2	233323045	233323045	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:233323045G>A	ENST00000295463.3	+	9	1187	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	370					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGACACGCTGACCCTCGTCA	0.617000													9	29					0	0	0.004482	0	0
PRPF19	27339	broad.mit.edu	37	11	60666723	60666723	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:60666723G>A	ENST00000227524.4	-	11	1087	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	294					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAGAGGCATTGGGGACCGACC	0.517000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	47					0	0	0.008291	0	0
ACO2	50	broad.mit.edu	37	22	41913580	41913580	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr22:41913580C>T	ENST00000396512.3	+	7	977	c.960C>T	c.(958-960)tcC>tcT	p.S320S	ACO2_ENST00000466237.1_3'UTR|ACO2_ENST00000216254.4_Silent_p.S295S			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	295					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCACCACTTCCGTGTTCCCTT	0.622000											OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	47					0	0	0.009096	0	0
BTBD10	84280	broad.mit.edu	37	11	13443224	13443224	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:13443224C>T	ENST00000278174.5	-	3	508	c.263G>A	c.(262-264)aGa>aAa	p.R88K	BTBD10_ENST00000528120.1_Missense_Mutation_p.R40K|BTBD10_ENST00000530907.1_Missense_Mutation_p.R96K|BTBD10_ENST00000532261.1_5'UTR	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	88						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGTCACATTTCTAATACAAGG	0.398000													6	24					0	0	0.001984	0	0
IRX2	153572	broad.mit.edu	37	5	2749827	2749827	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:2749827G>A	ENST00000382611.6	-	2	572	c.324C>T	c.(322-324)taC>taT	p.Y108Y	IRX2_ENST00000302057.5_Silent_p.Y108Y|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCTGGTACGGGTAGGCCGCGC	0.672000													16	72					0	0	0.004007	0	0
DAK	26007	broad.mit.edu	37	11	61110123	61110123	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:61110123G>A	ENST00000394900.3	+	9	997	c.768G>A	c.(766-768)gtG>gtA	p.V256V		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	256	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGTGCCTGTGCAGCCCGGTG	0.607000													21	51					0	0	0.010504	0	0
AGPAT4	56895	broad.mit.edu	37	6	161567608	161567608	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:161567608G>C	ENST00000320285.4	-	7	1003	c.791C>G	c.(790-792)cCt>cGt	p.P264R	AGPAT4_ENST00000457520.2_Missense_Mutation_p.P102R|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	264					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ATCGTCTTCAGGGATGTCTTC	0.587000													9	57					0	0	0.006214	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513916	1513916	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:1513916T>C	ENST00000421627.2	+	3	1192	c.1058T>C	c.(1057-1059)aTg>aCg	p.M353T	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	432					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			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)		TGCAGGAGAATGAGAAGTGGG	0.557000													4	35					0	0	0.000602	0	0
UPP2	151531	broad.mit.edu	37	2	158974356	158974356	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:158974356C>A	ENST00000605860.1	+	7	577	c.531C>A	c.(529-531)tcC>tcA	p.S177S	UPP2_ENST00000005756.4_Silent_p.S120S|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Silent_p.S177S			O95045	UPP2_HUMAN	uridine phosphorylase 2	120					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GCATCCCCTCCATTTCTATTA	0.418000													24	75					1.64293e-13	2.10058e-13	0.003330	1	0
FAM127C	441518	broad.mit.edu	37	X	134156260	134156260	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:134156260A>T	ENST00000391440.1	-	1	299	c.230T>A	c.(229-231)cTg>cAg	p.L77Q		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	77										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					CACCCACTGCAGGGCGGGCCC	0.602000													25	78					0	0	0.003954	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	26					0	0	0.000602	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478104	42478104	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:42478104C>A	ENST00000434000.1	-	9	1389	c.1107G>T	c.(1105-1107)aaG>aaT	p.K369N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.K447N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	447						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTGCTGCCGCCTTGATGCAGC	0.498000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	130					9.98788e-38	1.48364e-37	0.014410	1	0
GPR20	2843	broad.mit.edu	37	8	142367614	142367614	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:142367614G>A	ENST00000377741.3	-	2	500	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	137						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GAAGAGGATGGAGCAGTGCAT	0.682000													17	47					0	0	0.004007	0	0
POLR3B	55703	broad.mit.edu	37	12	106786859	106786859	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:106786859G>T	ENST00000228347.4	+	10	996	c.774G>T	c.(772-774)gaG>gaT	p.E258D	POLR3B_ENST00000539066.1_Missense_Mutation_p.E200D	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	258				E -> A (in Ref. 1; AAM18214).	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			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						TTGGAACAGAGGAGCACGTGA	0.463000													26	62					6.32553e-13	8.02049e-13	0.004656	1	0
ZNF98	148198	broad.mit.edu	37	19	22575653	22575653	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:22575653G>T	ENST00000357774.5	-	4	505	c.384C>A	c.(382-384)agC>agA	p.S128R		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACTCATCCATGCTTTTACAGT	0.323000													5	18					3.59834e-05	3.99912e-05	0.001168	1	0
FAM65B	9750	broad.mit.edu	37	6	24850828	24850828	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:24850828G>C	ENST00000259698.4	-	10	970	c.795C>G	c.(793-795)atC>atG	p.I265M	FAM65B_ENST00000540914.1_Missense_Mutation_p.I265M|FAM65B_ENST00000510784.2_Missense_Mutation_p.I299M|FAM65B_ENST00000538035.1_Missense_Mutation_p.I294M|FAM65B_ENST00000378023.4_Missense_Mutation_p.I265M	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	265					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTGTACCTTGATGGAGATGA	0.512000													15	40					0	0	0.002450	0	0
MUC17	140453	broad.mit.edu	37	7	100686595	100686595	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:100686595A>G	ENST00000306151.4	+	3	11962	c.11898A>G	c.(11896-11898)atA>atG	p.I3966M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3966						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCCTGTGATAACTTCCACTG	0.453000													5	128					0	0	0.001168	0	0
TRIO	7204	broad.mit.edu	37	5	14291337	14291337	+	Splice_Site	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:14291337G>T	ENST00000344204.4	+	5	1077	c.1053_splice	c.e5+1	p.K351_splice	TRIO_ENST00000509967.2_Splice_Site_p.K302_splice|TRIO_ENST00000537187.1_Splice_Site_p.K351_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	351					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATGCTGAGAAGGTAAAGACGG	0.557000													15	44					3.35478e-16	4.50246e-16	0.003163	1	0
CYYR1	116159	broad.mit.edu	37	21	27852738	27852738	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr21:27852738T>A	ENST00000299340.4	-	3	530	c.187A>T	c.(187-189)Att>Ttt	p.I63F	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.I63F	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	63						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATGCCCGCAATTGCAGTGCCC	0.423000													7	48					0	0	0.001984	0	0
ITGB3	3690	broad.mit.edu	37	17	45376752	45376752	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:45376752C>G	ENST00000560629.1	+	11	1734	c.1734C>G	c.(1732-1734)taC>taG	p.Y578*	ITGB3_ENST00000435993.2_Missense_Mutation_p.T543S|ITGB3_ENST00000559488.1_Missense_Mutation_p.T590S			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|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|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ACCACGCGTACTGACACCTGC	0.607000													46	80					0	0	0.014410	0	0
FLNC	2318	broad.mit.edu	37	7	128494176	128494176	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:128494176C>G	ENST00000325888.8	+	40	6894	c.6633C>G	c.(6631-6633)acC>acG	p.T2211T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.T2178T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2211	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGAGTCCACCCAGGTCGGCG	0.692000													14	16					0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237774159	237774159	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:237774159T>G	ENST00000366574.2	+	36	5098	c.4781T>G	c.(4780-4782)gTc>gGc	p.V1594G	RYR2_ENST00000360064.6_Missense_Mutation_p.V1592G|RYR2_ENST00000542537.1_Missense_Mutation_p.V1578G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1594	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTCACACGTCCTGTGGAGC	0.547000													4	19					0	0	0.000602	0	0
CWC27	10283	broad.mit.edu	37	5	64314067	64314067	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:64314067C>A	ENST00000381070.3	+	14	1555	c.1338C>A	c.(1336-1338)atC>atA	p.I446I	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	446					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CATTTGAAATCTATGATCCTC	0.358000													13	52					0.000219431	0.000237545	0.002450	1	0
PRUNE2	158471	broad.mit.edu	37	9	79322624	79322624	+	Silent	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:79322624A>T	ENST00000428286.1	-	8	4689	c.3489T>A	c.(3487-3489)ctT>ctA	p.L1163L	PRUNE2_ENST00000376718.3_Silent_p.L1522L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1522					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGCTCCTGGAAGGCTATTTT	0.418000													16	14					0	0	0.003163	0	0
SDR9C7	121214	broad.mit.edu	37	12	57327928	57327928	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:57327928G>T	ENST00000293502.1	-	1	261	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	40						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTGGCCAGCAGGTTCCCGAAG	0.537000													9	18					1.76689e-08	2.09022e-08	0.006214	1	0
FGD6	55785	broad.mit.edu	37	12	95603981	95603981	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:95603981T>A	ENST00000343958.4	-	2	1302	c.1079A>T	c.(1078-1080)aAa>aTa	p.K360I	FGD6_ENST00000549499.1_Missense_Mutation_p.K360I|FGD6_ENST00000546711.1_Missense_Mutation_p.K360I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	360					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AACACTGATTTTATTGATTTT	0.373000													18	45					0	0	0.004990	0	0
MYOM1	8736	broad.mit.edu	37	18	3067287	3067287	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr18:3067287G>T	ENST00000400569.3	-	38	5364	c.5031C>A	c.(5029-5031)tcC>tcA	p.S1677S	MYOM1_ENST00000261606.7_Silent_p.S1581S|MYOM1_ENST00000356443.4_Silent_p.S1677S			P52179	MYOM1_HUMAN	myomesin 1	1677						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCTTTCAGGGACTCCAAGG	0.587000													14	12					9.31168e-06	1.04756e-05	0.001855	1	0
F2RL2	2151	broad.mit.edu	37	5	75913421	75913421	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:75913421A>T	ENST00000296641.4	-	2	1314	c.1111T>A	c.(1111-1113)Tac>Aac	p.Y371N	F2RL2_ENST00000504899.1_Missense_Mutation_p.Y349N|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	371					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TTTGTAAGGTAAGCAGTGGAG	0.368000													5	25					0	0	0.000602	0	0
ESX1	80712	broad.mit.edu	37	X	103499225	103499225	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:103499225C>A	ENST00000372588.4	-	2	199	c.116G>T	c.(115-117)aGg>aTg	p.R39M		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	39					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTCTCCTCCCCTTGCCATCAG	0.592000													43	151					2.95478e-19	4.18593e-19	0.008740	1	0
ZNF716	441234	broad.mit.edu	37	7	57528740	57528740	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:57528740C>T	ENST00000420713.1	+	4	685	c.573C>T	c.(571-573)ggC>ggT	p.G191G		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAACGATGGCAAATCATTTT	0.338000													10	10					0	0	0.006214	0	0
PHF1	5252	broad.mit.edu	37	6	33383646	33383646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:33383646C>T	ENST00000374512.3	+	14	1640	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	PHF1_ENST00000374516.3_Missense_Mutation_p.S492L	NM_002636.4	NP_002627.1	O43189	PHF1_HUMAN	PHD finger protein 1	0					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCCCCCCACTCGATGACTGCC	0.537000													66	87					0	0	0.014410	0	0
UGDH	7358	broad.mit.edu	37	4	39515741	39515741	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:39515741C>T	ENST00000316423.6	-	3	568	c.226G>A	c.(226-228)Gat>Aat	p.D76N	UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Missense_Mutation_p.D76N|UGDH_ENST00000501493.2_Missense_Mutation_p.D76N|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	76					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	ATGGCATCATCAATATTGGTA	0.289000													13	53					0	0	0.002450	0	0
ZNF256	10172	broad.mit.edu	37	19	58453016	58453016	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:58453016G>T	ENST00000282308.3	-	3	1356	c.1160C>A	c.(1159-1161)tCc>tAc	p.S387Y	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	387					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTGGCTAAAGGATTTCCCACA	0.413000													8	38					0.00307968	0.00327216	0.003080	1	0
RAB9B	51209	broad.mit.edu	37	X	103080378	103080378	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:103080378C>T	ENST00000243298.2	-	3	621	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	113					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TGCTCAGGGTCCTTCACATCC	0.483000													41	147					0	0	0.007835	0	0
SLC6A17	388662	broad.mit.edu	37	1	110714814	110714814	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:110714814G>T	ENST00000331565.4	+	3	904	c.419G>T	c.(418-420)gGg>gTg	p.G140V	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	140					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCCCGCCTGGGGGGCATCGGC	0.632000													6	10					3.59834e-05	3.99912e-05	0.001168	1	0
RAB35	11021	broad.mit.edu	37	12	120546238	120546238	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:120546238G>A	ENST00000229340.5	-	2	274	c.86C>T	c.(85-87)gCa>gTa	p.A29V	RAB35_ENST00000534951.1_Missense_Mutation_p.A29V	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	29					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		AGTGTTGTCTGCAAAACGCAA	0.572000													3	27					0	0	0.009096	0	0
DLGAP2	9228	broad.mit.edu	37	8	1645345	1645345	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:1645345G>A	ENST00000421627.2	+	11	2723	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	942					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			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)		CGACGTCGCAGGACCTGGCCG	0.647000													10	47					0	0	0.006214	0	0
TAAR6	319100	broad.mit.edu	37	6	132891745	132891745	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:132891745G>T	ENST00000275198.1	+	1	285	c.285G>T	c.(283-285)gaG>gaT	p.E95D		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	95						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GGACGGTGGAGAGCTGCTGGT	0.502000													32	93					1.74807e-11	2.18034e-11	0.010818	1	0
UNC5D	137970	broad.mit.edu	37	8	35624523	35624523	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:35624523T>A	ENST00000287272.2	+	14	2230	c.2210T>A	c.(2209-2211)aTc>aAc	p.I737N	UNC5D_ENST00000420357.1_Missense_Mutation_p.I739N|UNC5D_ENST00000404895.2_Missense_Mutation_p.I806N|UNC5D_ENST00000453357.2_Missense_Mutation_p.I801N|UNC5D_ENST00000449677.1_Missense_Mutation_p.I382N|UNC5D_ENST00000416672.1_Missense_Mutation_p.I811N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	806					apoptosis|axon guidance	integral to membrane	receptor activity			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)		TCCTGCAAAATCTGCATTCGG	0.557000													5	59					0	0	0.000602	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188422	37188422	+	RNA	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:37188422C>G	ENST00000425901.2	+	0	2264					NR_033753.2																						AGACCAGGTTCAGACTCAGCA	0.493000													25	118					0	0	0.003954	0	0
DYTN	391475	broad.mit.edu	37	2	207564891	207564891	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:207564891G>A	ENST00000452335.2	-	6	649	c.533C>T	c.(532-534)gCc>gTc	p.A178V	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	178						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GCTGCGGGTGGCACTTTCCAC	0.498000													6	50					0	0	0.001984	0	0
GRTP1	79774	broad.mit.edu	37	13	113979886	113979886	+	Silent	SNP	T	T	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr13:113979886T>G	ENST00000375430.4	-	7	1057	c.1011A>C	c.(1009-1011)gcA>gcC	p.A337A	GRTP1_ENST00000375431.4_Intron|GRTP1_ENST00000326039.3_Silent_p.A259A			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	0						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCCCGTCCTGTGCACCCTCCG	0.687000													5	15					0	0	0.000602	0	0
NPNT	255743	broad.mit.edu	37	4	106858224	106858224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:106858224C>A	ENST00000379987.2	+	4	540	c.324C>A	c.(322-324)taC>taA	p.Y108*	NPNT_ENST00000506666.1_Nonsense_Mutation_p.Y138*|NPNT_ENST00000453617.2_Nonsense_Mutation_p.Y125*|NPNT_ENST00000427316.2_Nonsense_Mutation_p.Y138*|NPNT_ENST00000514622.1_Nonsense_Mutation_p.Y108*|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Nonsense_Mutation_p.Y108*	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			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)		TGAACACTTACGGCAGCTACA	0.448000													23	13					9.57634e-11	1.18478e-10	0.003330	1	0
ZMAT1	84460	broad.mit.edu	37	X	101139699	101139699	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:101139699T>A	ENST00000372782.3	-	7	747	c.700A>T	c.(700-702)Aga>Tga	p.R234*	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Nonsense_Mutation_p.R234*|ZMAT1_ENST00000458570.1_Nonsense_Mutation_p.R63*	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	63						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCTAGTCCTCTGGCTTTCTGC	0.408000													27	67					0	0	0.005443	0	0
KCNH6	81033	broad.mit.edu	37	17	61611628	61611628	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:61611628G>A	ENST00000583023.1	+	5	1068	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	KCNH6_ENST00000456941.2_Missense_Mutation_p.A353T|KCNH6_ENST00000580652.1_Missense_Mutation_p.A353T|KCNH6_ENST00000314672.5_Missense_Mutation_p.A353T|KCNH6_ENST00000581784.1_Missense_Mutation_p.A353T	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	353					regulation of transcription, DNA-dependent|signal transduction			p.A353T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CATGGTGGCCGCCATCCCTTT	0.622000													19	88					0	0	0.006122	0	0
DHX40	79665	broad.mit.edu	37	17	57647936	57647936	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:57647936C>T	ENST00000451169.2	+	3	400	c.41C>T	c.(40-42)tCa>tTa	p.S14L	DHX40_ENST00000425628.3_Intron|DHX40_ENST00000251241.4_Missense_Mutation_p.S113L			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	113							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GCTGCTATATCAGTTGCTCAG	0.373000													25	84					0	0	0.003954	0	0
SMAD5	4090	broad.mit.edu	37	5	135489586	135489586	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:135489586A>G	ENST00000545279.1	+	3	497	c.137A>G	c.(136-138)aAg>aGg	p.K46R	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.K46R	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	46	MH1.|Poly-Lys.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAAAGAAAAAGGGTGCCATG	0.473000													3	48					0	0	0.004672	0	0
LGALS14	56891	broad.mit.edu	37	19	40199884	40199884	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:40199884G>T	ENST00000392052.3	+	4	574	c.351G>T	c.(349-351)ccG>ccT	p.P117P	LGALS14_ENST00000360675.3_Silent_p.P146P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	117	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			ATCGATTCCCGCCAGCATCTG	0.458000													11	37					3.07112e-06	3.50657e-06	0.010729	1	0
KCNA6	3742	broad.mit.edu	37	12	4920657	4920657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:4920657C>T	ENST00000433855.1	+	1	2316	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.Q484*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	484						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACTTGTGGGCAGCCTGCGCC	0.607000										HNSCC(72;0.22)			14	33					0	0	0.002450	0	0
C11orf30	56946	broad.mit.edu	37	11	76227220	76227220	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:76227220C>G	ENST00000529032.1	+	10	1548	c.1548C>G	c.(1546-1548)agC>agG	p.S516R	C11orf30_ENST00000343878.3_Missense_Mutation_p.S516R|C11orf30_ENST00000525038.1_Missense_Mutation_p.S531R|C11orf30_ENST00000533248.1_Missense_Mutation_p.S530R|C11orf30_ENST00000334736.3_Missense_Mutation_p.S516R|C11orf30_ENST00000524767.1_Missense_Mutation_p.S531R|C11orf30_ENST00000525919.1_Missense_Mutation_p.S517R|C11orf30_ENST00000524490.1_Missense_Mutation_p.S432R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	516	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAACAGTGAGCCCATCCATTG	0.443000													14	90					0	0	0.003163	0	0
IGF2R	3482	broad.mit.edu	37	6	160430048	160430048	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:160430048C>G	ENST00000356956.1	+	3	444	c.296C>G	c.(295-297)tCt>tGt	p.S99C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	99					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATAGGTGACTCTGTTTTGAGA	0.403000													20	53					0	0	0.010504	0	0
DEPDC5	9681	broad.mit.edu	37	22	32188070	32188070	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr22:32188070T>A	ENST00000400246.1	+	11	818	c.676T>A	c.(676-678)Tat>Aat	p.Y226N	DEPDC5_ENST00000382105.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.Y226N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.Y198N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.Y226N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.Y226N			O75140	DEPD5_HUMAN	DEP domain containing 5	226					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGAACTTTCTATGATGCAAA	0.388000													16	17					0	0	0.004007	0	0
HOXA1	3198	broad.mit.edu	37	7	27134078	27134078	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:27134078G>C	ENST00000343060.4	-	2	1050	c.989C>G	c.(988-990)aCt>aGt	p.T330S	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	330						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGTAGTCAGAGTGTCTGAGGT	0.597000													7	60					0	0	0.003080	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982135	61982135	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr20:61982135C>A	ENST00000370263.4	-	5	849	c.628G>T	c.(628-630)Gtc>Ttc	p.V210F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	210					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCACGATGACCCACTCGCCA	0.597000													21	44					1.28384e-07	1.50712e-07	0.012319	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453175	100453175	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:100453175A>C	ENST00000279907.7	-	14	2092	c.1880T>G	c.(1879-1881)tTt>tGt	p.F627C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.F277C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	627										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAAGTCTTGAAACAAAGCTTC	0.358000													5	25					0	0	0.001168	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190856	39190856	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:39190856G>A	ENST00000344363.5	-	1	251	c.218C>T	c.(217-219)cCa>cTa	p.P73L		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	83			Missing (in allele KAP1.9).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCAGCTTGGCTGGCAGCA	0.607000													30	47					0	0	0.007291	0	0
STK11IP	114790	broad.mit.edu	37	2	220478566	220478566	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:220478566G>C	ENST00000456909.1	+	21	2720	c.2630G>C	c.(2629-2631)cGg>cCg	p.R877P	STK11IP_ENST00000295641.10_Missense_Mutation_p.R888P			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	888					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGCCTGCGGCTAGAGTGG	0.667000													11	44					0	0	0.008291	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735495	55735495	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:55735495C>G	ENST00000312345.2	-	1	495	c.445G>C	c.(445-447)Ggg>Cgg	p.G149R		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CATGTTTCCCCAATTACTACA	0.408000													13	34					0	0	0.013537	0	0
LONRF3	79836	broad.mit.edu	37	X	118123528	118123528	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:118123528C>T	ENST00000365713.2	+	3	1257	c.1094C>T	c.(1093-1095)cCa>cTa	p.P365L	LONRF3_ENST00000422289.2_Missense_Mutation_p.P150L|LONRF3_ENST00000304778.7_Missense_Mutation_p.P365L|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.P406L			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	406					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCTACCTCTCCAAAAGCTGCT	0.498000													8	30					0	0	0.004482	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815150	30815150	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:30815150C>G	ENST00000313401.3	+	2	1201	c.512C>G	c.(511-513)cCc>cGc	p.P171R		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	171					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CACCTGTCCCCCACGGACCCC	0.672000													7	75					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179467165	179467165	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:179467165C>G	ENST00000589042.1	-	283	55188	c.54964G>C	c.(54964-54966)Gta>Cta	p.V18322L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16681L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15754L|TTN_ENST00000342175.6_Missense_Mutation_p.V9449L|TTN_ENST00000359218.5_Missense_Mutation_p.V9382L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9257L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16681	Fibronectin type-III 32.						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)			GGTTCATTTACTCTTTTCCAG	0.423000													10	29					0	0	0.008291	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814840	106814840	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:106814840A>T	ENST00000407775.2	+	8	2780	c.2530A>T	c.(2530-2532)Acc>Tcc	p.T844S	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T575S|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T712S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T712S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	844					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGAGCGGACGACCACGTCTCC	0.458000													5	15					0	0	0.000602	0	0
FAM47C	442444	broad.mit.edu	37	X	37027388	37027388	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:37027388G>A	ENST00000358047.3	+	1	957	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	302										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGAGACTGGAGTGCCTGAT	0.602000													15	81					0	0	0.003163	0	0
OR13C8	138802	broad.mit.edu	37	9	107332000	107332000	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:107332000C>A	ENST00000335040.1	+	1	552	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCTGGCTATCTTGAAACTGG	0.383000													16	45					8.60227e-14	1.11538e-13	0.004007	1	0
EIF4E1B	253314	broad.mit.edu	37	5	176072502	176072502	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:176072502G>T	ENST00000318682.6	+	8	1183	c.599G>T	c.(598-600)gGc>gTc	p.G200V	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.G200V|EIF4E1B_ENST00000512734.1_3'UTR	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	200					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACCAGGCGGGCGTGCTGCAC	0.627000													12	16					2.27111e-07	2.64579e-07	0.013537	1	0
RANBP6	26953	broad.mit.edu	37	9	6013819	6013819	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:6013819A>C	ENST00000259569.5	-	1	1799	c.1789T>G	c.(1789-1791)Tca>Gca	p.S597A	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	597					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTAAGTCTGATTGTGTCTTC	0.368000													8	59					0	0	0.004482	0	0
IRGC	56269	broad.mit.edu	37	19	44224056	44224056	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:44224056A>T	ENST00000244314.5	+	2	1545	c.1346A>T	c.(1345-1347)aAg>aTg	p.K449M		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	449						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCCTTCTTAAGTACATTCTG	0.557000													18	30					0	0	0.007413	0	0
ZFP64	55734	broad.mit.edu	37	20	50768964	50768964	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr20:50768964C>G	ENST00000216923.4	-	6	2116	c.1767G>C	c.(1765-1767)acG>acC	p.T589T	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.T535T|ZFP64_ENST00000371515.4_Silent_p.T587T|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CACCTGAGGCCGTGGGGATGA	0.597000													24	34					0	0	0.003330	0	0
FBXO41	150726	broad.mit.edu	37	2	73491152	73491152	+	Silent	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:73491152G>C	ENST00000521871.1	-	7	2251	c.1836C>G	c.(1834-1836)acC>acG	p.T612T	FBXO41_ENST00000295133.5_Silent_p.T673T|FBXO41_ENST00000520530.2_Silent_p.T612T			Q8TF61	FBX41_HUMAN	F-box protein 41	612						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AGTGGGCCTGGGTGCACCACT	0.627000													5	4					0	0	0.000602	0	0
LARP1	23367	broad.mit.edu	37	5	154188019	154188019	+	Splice_Site	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:154188019A>T	ENST00000336314.4	+	16	2492	c.2467_splice	c.e16-1	p.E823_splice		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	900							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCCATCAGAGCGGAAACGC	0.493000													23	34					0	0	0.014323	0	0
PASD1	139135	broad.mit.edu	37	X	150840242	150840242	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:150840242C>A	ENST00000370357.4	+	13	1673	c.1428C>A	c.(1426-1428)gcC>gcA	p.A476A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	476						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTGTTGCCTTCAACCAGG	0.463000													10	45					0.00829132	0.0087287	0.008291	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107423166	107423166	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:107423166G>T	ENST00000409382.3	-	6	2168	c.1558C>A	c.(1558-1560)Cct>Act	p.P520T	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P520T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	520					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTGGTGCAGGGCAGTGCACC	0.507000													30	59					8.4185e-14	1.09464e-13	0.012213	1	0
IQSEC2	23096	broad.mit.edu	37	X	53267475	53267475	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:53267475C>T	ENST00000396435.3	-	12	3329	c.3129G>A	c.(3127-3129)ggG>ggA	p.G1043G	IQSEC2_ENST00000375368.5_Silent_p.G1033G|IQSEC2_ENST00000375365.2_Silent_p.G838G	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1033	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCAACTTGATCCCAAACTGGT	0.507000													10	23					0	0	0.010729	0	0
TGIF2	60436	broad.mit.edu	37	20	35219609	35219609	+	Silent	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr20:35219609A>G	ENST00000373874.2	+	3	688	c.489A>G	c.(487-489)acA>acG	p.T163T	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Silent_p.T163T|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	163	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTGGTAGCACACTTACTCTGC	0.627000													18	63					0	0	0.004990	0	0
MPP1	4354	broad.mit.edu	37	X	154013434	154013434	+	Splice_Site	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:154013434T>C	ENST00000413259.3	-	8	980		c.e8-2		MPP1_ENST00000462825.1_Splice_Site|MPP1_ENST00000393531.1_Splice_Site|MPP1_ENST00000369534.3_Splice_Site	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa						regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCACTCGCCTGGTAGGAAAA	0.547000													17	14					0	0	0.004007	0	0
TIMP1	7076	broad.mit.edu	37	X	47444660	47444660	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:47444660C>A	ENST00000377018.2	+	3	593	c.29C>A	c.(28-30)cCc>cAc	p.P10H	SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000218388.4_Silent_p.T86T|TIMP1_ENST00000456754.2_Silent_p.T86T|TIMP1_ENST00000377017.1_Silent_p.T22T			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						TCGTCTACACCCCCGCCATGG	0.562000													5	18					0.00116845	0.00125308	0.001168	1	0
THSD7A	221981	broad.mit.edu	37	7	11676584	11676584	+	Silent	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:11676584T>C	ENST00000423059.3	-	2	446	c.195A>G	c.(193-195)ccA>ccG	p.P65P	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	65	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATCGGCCCCATGGACCTACAA	0.443000										HNSCC(18;0.044)			16	59					0	0	0.003163	0	0
ZNF536	9745	broad.mit.edu	37	19	30935900	30935900	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:30935900C>A	ENST00000355537.3	+	2	1578	c.1431C>A	c.(1429-1431)gcC>gcA	p.A477A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCAGCATGGCCCACGGCGTCC	0.667000													6	57					8.12818e-05	8.92545e-05	0.001984	1	0
DMD	1756	broad.mit.edu	37	X	31792208	31792208	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:31792208C>G	ENST00000357033.4	-	51	7617	c.7411G>C	c.(7411-7413)Gct>Cct	p.A2471P	DMD_ENST00000343523.2_Missense_Mutation_p.A11P|DMD_ENST00000378677.2_Missense_Mutation_p.A2467P|DMD_ENST00000474231.1_Missense_Mutation_p.A11P|DMD_ENST00000378707.3_Missense_Mutation_p.A11P|DMD_ENST00000359836.1_Missense_Mutation_p.A11P|DMD_ENST00000541735.1_Missense_Mutation_p.A11P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2471					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTGCCAGAGCAGGTACCTCC	0.468000													10	45					0	0	0.006214	0	0
MEGF8	1954	broad.mit.edu	37	19	42853681	42853681	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:42853681G>A	ENST00000334370.4	+	13	2763	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	MEGF8_ENST00000251268.6_Missense_Mutation_p.E777K	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	777						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCTCATCAGGAGAAGGAGAC	0.637000													8	25					0	0	0.003080	0	0
PIGW	284098	broad.mit.edu	37	17	34894229	34894229	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:34894229C>T	ENST00000592983.1	+	2	1859	c.1279C>T	c.(1279-1281)Cta>Tta	p.L427L	PIGW_ENST00000328396.2_Silent_p.L427L|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	427					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCAGAATCTCTAGTCCCTGA	0.343000													21	46					0	0	0.008871	0	0
NFRKB	4798	broad.mit.edu	37	11	129746708	129746708	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:129746708C>T	ENST00000446488.3	-	16	1758	c.1655G>A	c.(1654-1656)gGc>gAc	p.G552D	NFRKB_ENST00000524794.1_Missense_Mutation_p.G577D|NFRKB_ENST00000524746.1_Missense_Mutation_p.G552D|NFRKB_ENST00000304521.5_Missense_Mutation_p.G552D	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	552					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTCAAACACGCCCTTCACTGG	0.582000													30	40					0	0	0.008361	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201577	140201577	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:140201577C>G	ENST00000529859.1	+	1	217	c.217C>G	c.(217-219)Ctt>Gtt	p.L73V	PCDHA5_ENST00000378126.3_Missense_Mutation_p.L73V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.L73V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1												p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGGGACCTTCTGGAGGT	0.642000													70	100					0	0	0.014410	0	0
EXTL1	2134	broad.mit.edu	37	1	26357001	26357001	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:26357001G>T	ENST00000374280.3	+	4	1883	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	339					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCTGCACGGGTCCTCGCC	0.587000													19	65					8.04996e-18	1.11629e-17	0.012319	1	0
CYP11B1	1584	broad.mit.edu	37	8	143956411	143956411	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:143956411G>A	ENST00000292427.4	-	8	1392	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R525C|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	454			R -> C (in AH4).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TCTGCCAGGCGCCGCCCAAGG	0.677000									Familial Hyperaldosteronism type I				14	86					0	0	0.003163	0	0
PIDD	55367	broad.mit.edu	37	11	799896	799896	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:799896C>A	ENST00000347755.5	-	15	2534	c.2393G>T	c.(2392-2394)cGt>cTt	p.R798L	PIDD_ENST00000411829.2_Missense_Mutation_p.R781L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	798	Death.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CAGACCCAGACGCCCAGCCAC	0.692000													3	28					6.4e-05	7.06154e-05	0.004672	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105467760	105467760	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:105467760C>T	ENST00000258494.9	-	2	212	c.72G>A	c.(70-72)aaG>aaA	p.K24K	ALDH1L2_ENST00000424857.2_Silent_p.K24K|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	24	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTAGTGCCAACTTCAGCTTGT	0.453000													15	55					0	0	0.004007	0	0
FRMD7	90167	broad.mit.edu	37	X	131212132	131212132	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:131212132T>C	ENST00000298542.4	-	12	2088	c.1913A>G	c.(1912-1914)gAt>gGt	p.D638G	FRMD7_ENST00000464296.1_Missense_Mutation_p.D623G|FRMD7_ENST00000370879.1_Missense_Mutation_p.D518G	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	638					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGTACTTTGATCCATTAGAAC	0.413000													22	68					0	0	0.002780	0	0
SYTL4	94121	broad.mit.edu	37	X	99956570	99956570	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:99956570C>A	ENST00000372981.1	-	3	396	c.210G>T	c.(208-210)ctG>ctT	p.L70L	SYTL4_ENST00000455616.1_Silent_p.L70L|SYTL4_ENST00000372989.1_Silent_p.L70L|SYTL4_ENST00000454200.2_Silent_p.L70L|SYTL4_ENST00000263033.5_Silent_p.L70L|SYTL4_ENST00000276141.6_Silent_p.L70L			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	70	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCAAACGGCCCAGGCTCTCCT	0.547000													28	51					5.61819e-17	7.60693e-17	0.005443	1	0
EIF2AK1	27102	broad.mit.edu	37	7	6094328	6094328	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:6094328A>T	ENST00000199389.6	-	2	272	c.126T>A	c.(124-126)gaT>gaA	p.D42E	EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	42					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTGCTGGAACATCAGATTCTA	0.338000													5	61					0	0	0.001168	0	0
AGTR2	186	broad.mit.edu	37	X	115304569	115304569	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:115304569A>G	ENST00000371906.4	+	3	1226	c.1036A>G	c.(1036-1038)Agt>Ggt	p.S346G		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	346					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GAAAAGAGAGAGTATGTCTTG	0.428000													22	56					0	0	0.012319	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719169	140719169	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:140719169G>C	ENST00000394576.2	+	1	631	c.631G>C	c.(631-633)Gtt>Ctt	p.V211L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														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)			TCACCACCTCGTTCTCGTGGC	0.587000													35	50					0	0	0.012213	0	0
FSTL5	56884	broad.mit.edu	37	4	162463753	162463753	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:162463753G>T	ENST00000306100.5	-	9	1544	c.1108C>A	c.(1108-1110)Cct>Act	p.P370T	FSTL5_ENST00000536695.1_Missense_Mutation_p.P369T|FSTL5_ENST00000379164.4_Missense_Mutation_p.P369T|FSTL5_ENST00000427802.2_Missense_Mutation_p.P369T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	370	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAAGCTGAGGCTTTGGTATG	0.458000													17	17					1.37285e-15	1.83714e-15	0.004007	1	0
DNAI2	64446	broad.mit.edu	37	17	72278023	72278023	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:72278023C>A	ENST00000579490.1	+	1	373	c.238C>A	c.(238-240)Cgc>Agc	p.R80S	DNAI2_ENST00000582036.1_Missense_Mutation_p.R23S|DNAI2_ENST00000446837.2_Missense_Mutation_p.R23S|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_Missense_Mutation_p.R23S			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	23					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTTCTCGGACCGCCAGGCCGA	0.617000									Kartagener syndrome				49	62					4.18559e-23	6.0797e-23	0.014410	1	0
ADNP2	22850	broad.mit.edu	37	18	77894189	77894189	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr18:77894189A>G	ENST00000262198.4	+	4	1348	c.893A>G	c.(892-894)cAg>cGg	p.Q298R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	298	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCTTTGCCACAGAACAGTCCA	0.602000													19	44					0	0	0.010504	0	0
XIST	7503	broad.mit.edu	37	X	73070996	73070996	+	RNA	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:73070996A>T	ENST00000429829.1	-	0	1592					NR_001564.2																						AGCACTGTCCATCCCACCTTT	0.507000													56	161					0	0	0.014410	0	0
ZNF99	7652	broad.mit.edu	37	19	22941422	22941422	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:22941422C>T	ENST00000397104.3	-	5	1015	c.1016G>A	c.(1015-1017)tGt>tAt	p.C339Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.C430Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGCTTTGCCACATTCTTCACA	0.368000													12	25					0	0	0.010729	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176070182	176070182	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:176070182C>A	ENST00000318682.6	+	4	699	c.115C>A	c.(115-117)Ccc>Acc	p.P39T	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.P39T	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	39					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAAACTCTCCCAGGACTTT	0.612000													14	37					0.000219431	0.000237545	0.002450	1	0
DEPDC5	9681	broad.mit.edu	37	22	32239157	32239157	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr22:32239157G>T	ENST00000400246.1	+	28	2734	c.2592G>T	c.(2590-2592)acG>acT	p.T864T	DEPDC5_ENST00000382105.2_Silent_p.T786T|DEPDC5_ENST00000382111.2_Silent_p.T864T|DEPDC5_ENST00000382112.3_Silent_p.T855T|DEPDC5_ENST00000266091.3_Silent_p.T864T|DEPDC5_ENST00000535622.1_Silent_p.T786T|DEPDC5_ENST00000400248.1_Silent_p.T855T|DEPDC5_ENST00000400249.2_Silent_p.T855T			O75140	DEPD5_HUMAN	DEP domain containing 5	855					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACAAAGTGACGCTGAAGGATA	0.433000													17	26					3.41278e-10	4.19964e-10	0.004990	1	0
TP53	7157	broad.mit.edu	37	17	7577573	7577573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:7577573G>T	ENST00000420246.2	-	7	840	c.708C>A	c.(706-708)taC>taA	p.Y236*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Y236*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y236*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y236*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y236*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y236*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236*(12)|p.0?(8)|p.?(5)|p.Y236del(4)|p.Y236Y(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.N235_Y236delNY(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y143*(1)|p.I232_Y236delIHYNY(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTTACACATGTAGTTGTAGT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	14					2.94398e-08	3.46484e-08	0.007413	1	0
GLRA3	8001	broad.mit.edu	37	4	175565175	175565175	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:175565175T>A	ENST00000274093.3	-	10	1659	c.1157A>T	c.(1156-1158)tAt>tTt	p.Y386F	GLRA3_ENST00000340217.5_Missense_Mutation_p.Y371F	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	386					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TCCCATTCCATAGGCTGTGAA	0.453000													15	39					0	0	0.002450	0	0
FAM60A	58516	broad.mit.edu	37	12	31440662	31440662	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:31440662T>C	ENST00000337682.4	-	5	780	c.412A>G	c.(412-414)Agt>Ggt	p.S138G	FAM60A_ENST00000454658.2_Missense_Mutation_p.S138G|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	138										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GACTGGTTACTGTAACAAGGA	0.378000													10	8					0	0	0.008291	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485158	31485158	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:31485158C>A	ENST00000394863.3	+	4	315	c.185C>A	c.(184-186)aCg>aAg	p.T62K	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.T45K|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.T45K|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.T45K	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	62	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CTTCCCAGCACGGTATGCAAG	0.647000													16	84					0.000422831	0.000455586	0.004007	1	0
F13B	2165	broad.mit.edu	37	1	197021789	197021789	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:197021789C>T	ENST00000367412.1	-	9	1573	c.1530G>A	c.(1528-1530)gtG>gtA	p.V510V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	510	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAGGATATTTCACTTCTCCTC	0.323000													5	44					0	0	0.000602	0	0
IL10RA	3587	broad.mit.edu	37	11	117869812	117869812	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:117869812A>T	ENST00000227752.3	+	7	1313	c.1193A>T	c.(1192-1194)cAg>cTg	p.Q398L	IL10RA_ENST00000545409.1_Missense_Mutation_p.Q249L|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q378L|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	398						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AGCAGGGGCCAGGATGACAGT	0.647000													19	23					0	0	0.010504	0	0
OR2T2	401992	broad.mit.edu	37	1	248616271	248616271	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:248616271C>A	ENST00000342927.3	+	1	195	c.173C>A	c.(172-174)aCa>aAa	p.T58K		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T58K(1)		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)			CGCCTCCACACACCCATGTAC	0.512000													26	128					2.95478e-19	4.18593e-19	0.008740	1	0
THRA	7067	broad.mit.edu	37	17	38244647	38244647	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:38244647G>T	ENST00000450525.2	+	8	1367	c.876G>T	c.(874-876)ctG>ctT	p.L292L	THRA_ENST00000394121.4_Silent_p.L292L|THRA_ENST00000546243.1_Silent_p.L292L|THRA_ENST00000264637.4_Silent_p.L292L|THRA_ENST00000584985.1_Silent_p.L292L	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	292	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	ATGGCGGCCTGGGCGTAGTCT	0.607000													28	72					9.39395e-14	1.21119e-13	0.006320	1	0
N4BP2	55728	broad.mit.edu	37	4	40104480	40104480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:40104480A>T	ENST00000261435.6	+	4	1431	c.1015A>T	c.(1015-1017)Aag>Tag	p.K339*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	339	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AACTAAGGGGAAGGATGTGAG	0.512000													34	36					0	0	0.003271	0	0
IFI16	3428	broad.mit.edu	37	1	158986358	158986358	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:158986358C>A	ENST00000295809.7	+	4	672	c.417C>A	c.(415-417)ccC>ccA	p.P139P	IFI16_ENST00000368131.4_Silent_p.P139P|IFI16_ENST00000368132.3_Silent_p.P139P|IFI16_ENST00000359709.3_Intron|IFI16_ENST00000340979.6_Silent_p.P139P|IFI16_ENST00000448393.2_Silent_p.P139P|IFI16_ENST00000430894.2_Intron			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	139	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGGCTGGACCCAAAGGGAGTA	0.478000													18	27					6.94344e-10	8.45369e-10	0.006122	1	0
FBLN2	2199	broad.mit.edu	37	3	13670462	13670462	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:13670462A>G	ENST00000404922.3	+	12	2746	c.2627A>G	c.(2626-2628)aAc>aGc	p.N876S	FBLN2_ENST00000492059.1_Missense_Mutation_p.N876S|FBLN2_ENST00000535798.1_Missense_Mutation_p.N855S|FBLN2_ENST00000295760.7_Missense_Mutation_p.N829S	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	877	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCTGCATCAACACGGTGGGC	0.632000													4	9					0	0	0.009096	0	0
PTGS1	5742	broad.mit.edu	37	9	125154703	125154703	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:125154703G>T	ENST00000362012.2	+	11	1685	c.1680G>T	c.(1678-1680)acG>acT	p.T560T	PTGS1_ENST00000223423.4_Silent_p.T523T|PTGS1_ENST00000373698.5_Silent_p.T451T|PTGS1_ENST00000540753.1_Silent_p.T498T	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	560					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTGTCAAGACGGCCACACTGA	0.567000													11	56					3.86212e-05	4.2716e-05	0.008291	1	0
NUP153	9972	broad.mit.edu	37	6	17688669	17688669	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:17688669C>T	ENST00000262077.2	-	2	291	c.292G>A	c.(292-294)Gat>Aat	p.D98N	NUP153_ENST00000537253.1_Missense_Mutation_p.D98N	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	98					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTCTCCCATCAGTAATATTA	0.413000													25	41					0	0	0.003954	0	0
ZNF581	51545	broad.mit.edu	37	19	56156247	56156247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:56156247C>T	ENST00000587252.1	+	2	583	c.310C>T	c.(310-312)Cga>Tga	p.R104*	ZNF581_ENST00000270451.5_Nonsense_Mutation_p.R104*|ZNF581_ENST00000588537.1_Nonsense_Mutation_p.R104*			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTACCTTCAGCGACACAGCAT	0.587000													23	71					0	0	0.003330	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85438563	85438563	+	Silent	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:85438563A>G	ENST00000393217.2	+	4	373	c.312A>G	c.(310-312)gaA>gaG	p.E104E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	104										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGAATATGAAGAAAGTTCAG	0.264000													5	12					0	0	0.000602	0	0
TRIO	7204	broad.mit.edu	37	5	14280519	14280519	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:14280519C>G	ENST00000344204.4	+	3	345	c.321C>G	c.(319-321)ctC>ctG	p.L107L	TRIO_ENST00000509967.2_Silent_p.L58L|TRIO_ENST00000537187.1_Silent_p.L107L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	107	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGAGACTCATTTCCTATC	0.448000													5	57					0	0	0.000602	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394715	233394715	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:233394715C>T	ENST00000258229.8	-	5	1127	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	298						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTTTGTACCCGTTCCCTTAT	0.552000													7	83					0	0	0.001984	0	0
DRD5	1816	broad.mit.edu	37	4	9784944	9784944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:9784944G>T	ENST00000304374.2	+	1	1687	c.1291G>T	c.(1291-1293)Gag>Tag	p.E431*		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	431					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGACGAGGAGGAGGGTCCTTT	0.577000													13	42					4.3838e-07	5.09409e-07	0.001855	1	0
BAI3	577	broad.mit.edu	37	6	70071320	70071320	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:70071320G>C	ENST00000370598.1	+	29	4976	c.4155G>C	c.(4153-4155)aaG>aaC	p.K1385N	BAI3_ENST00000238918.8_Missense_Mutation_p.K591N|BAI3_ENST00000546190.1_Missense_Mutation_p.K349N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1385					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGCTGTGAAGAATTTCATGG	0.438000													10	74					0	0	0.006214	0	0
CACNA1D	776	broad.mit.edu	37	3	53757478	53757478	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:53757478C>T	ENST00000288139.3	+	14	1862	c.1744C>T	c.(1744-1746)Ctc>Ttc	p.L582F	CACNA1D_ENST00000350061.5_Missense_Mutation_p.L562F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L562F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	562					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAACAAAGTCCTCTTGGCTCT	0.512000													17	31					0	0	0.006122	0	0
CFH	3075	broad.mit.edu	37	1	196712628	196712628	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:196712628G>T	ENST00000367429.4	+	20	3420	c.3180G>T	c.(3178-3180)gtG>gtT	p.V1060V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1060	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTATATAGTGTCGAGACAGA	0.388000													29	28					3.99451e-17	5.44059e-17	0.009535	1	0
PCDH7	5099	broad.mit.edu	37	4	30724395	30724395	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:30724395G>A	ENST00000361762.2	+	1	2359	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D451N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	451	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCCGACCGAGACCAAGGCGA	0.652000													3	32					0	0	0.004672	0	0
TOB2	10766	broad.mit.edu	37	22	41833088	41833088	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr22:41833088C>T	ENST00000327492.3	-	2	968	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	88					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCAGCTCCTCAGGCACATTG	0.592000													16	112					0	0	0.004007	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699156	48699156	+	Splice_Site	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:48699156G>C	ENST00000354983.4	+	33	6330		c.e33+1		CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000359106.5_Splice_Site|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000352832.5_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGAGCAATGTACATACACA	0.607000													5	35					0	0	0.000602	0	0
HOXD12	3238	broad.mit.edu	37	2	176965464	176965464	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:176965464G>A	ENST00000406506.2	+	2	861	c.789G>A	c.(787-789)cgG>cgA	p.R263R	HOXD12_ENST00000404162.2_3'UTR			P35452	HXD12_HUMAN	homeobox D12	263						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGGTGCTTCGGGAGCAGGCGC	0.592000													4	8					0	0	0.009096	0	0
TBCK	93627	broad.mit.edu	37	4	107016734	107016734	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:107016734C>G	ENST00000273980.4	-	26	2923	c.2476G>C	c.(2476-2478)Ggg>Cgg	p.G826R	TBCK_ENST00000394708.2_Missense_Mutation_p.G826R|TBCK_ENST00000432496.2_Missense_Mutation_p.G826R|TBCK_ENST00000394706.3_Missense_Mutation_p.G787R|TBCK_ENST00000361687.4_Missense_Mutation_p.G763R			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	826	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GTAAGCTCCCCTTCTGCAGTG	0.463000													23	10					0	0	0.014323	0	0
PXDNL	137902	broad.mit.edu	37	8	52336147	52336147	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:52336147G>C	ENST00000356297.4	-	14	1883	c.1783C>G	c.(1783-1785)Ctt>Gtt	p.L595V	PXDNL_ENST00000543296.1_Missense_Mutation_p.L595V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	595	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGACTGTAAGAAACATGTTG	0.453000													10	15					0	0	0.008291	0	0
UBBP4	23666	broad.mit.edu	37	17	21731221	21731221	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:21731221A>T	ENST00000584755.1	+	2	920	c.523A>T	c.(523-525)Atc>Ttc	p.I175F	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CAGTGACACCATCGAAAATGT	0.547000													9	88					0	0	0.006214	0	0
CMTM5	116173	broad.mit.edu	37	14	23847972	23847972	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:23847972C>T	ENST00000339180.4	+	3	590	c.374C>T	c.(373-375)cCc>cTc	p.P125L	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000359320.3_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000382809.2_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	125	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GGCTTGACCCCCCCGGGCTGG	0.647000													4	19					0	0	0.009096	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022759	59022759	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:59022759C>G	ENST00000263093.2	-	1	673	c.564G>C	c.(562-564)ctG>ctC	p.L188L	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	188					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCACATACACAGGGCTGGAA	0.687000													8	7					0	0	0.003080	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													4	30					0	0	0.001168	0	0
CSF1R	1436	broad.mit.edu	37	5	149459794	149459794	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:149459794A>T	ENST00000286301.3	-	4	704	c.413T>A	c.(412-414)gTc>gAc	p.V138D	CSF1R_ENST00000543093.1_Missense_Mutation_p.V138D	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	138	Ig-like C2-type 2.				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			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)	CACCAGCGAGACGCCTGCTTC	0.642000													11	42					0	0	0.013537	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454056	37454056	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr10:37454056C>A	ENST00000374660.1	+	18	1968	c.1869C>A	c.(1867-1869)gaC>gaA	p.D623E	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D623E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D623E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	679						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACAAAAGGACTATGAAGAAA	0.294000													12	25					7.03913e-09	8.45801e-09	0.013537	1	0
BLK	640	broad.mit.edu	37	8	11412886	11412886	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:11412886G>C	ENST00000259089.4	+	8	1257	c.665G>C	c.(664-666)cGc>cCc	p.R222P	BLK_ENST00000529894.1_Missense_Mutation_p.R151P	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	222					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCCTGTGTGCGCCCGGCCCCG	0.617000													13	63					0	0	0.001855	0	0
TRBV9	28586	broad.mit.edu	37	7	142239560	142239560	+	RNA	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:142239560A>T	ENST00000390363.2	-	0	366																											ACAGAAATACAAAGCTGAGTC	0.527000													26	58					0	0	0.004656	0	0
LILRB2	10288	broad.mit.edu	37	19	54783278	54783278	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:54783278G>A	ENST00000391748.1	-	5	707	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	LILRB2_ENST00000391749.4_Missense_Mutation_p.H194Y|LILRB2_ENST00000314446.5_Missense_Mutation_p.H194Y|LILRB2_ENST00000434421.1_Missense_Mutation_p.H78Y|LILRB2_ENST00000391746.1_Missense_Mutation_p.H194Y	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	194	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGCACCTGTGCGACCACCTG	0.582000													30	78					0	0	0.009535	0	0
GBA3	57733	broad.mit.edu	37	4	22749486	22749486	+	RNA	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:22749486G>C	ENST00000508166.1	+	0	956				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCATCATCGAGGCTTCCAGAA	0.393000													10	23					0	0	0.006214	0	0
MYH11	4629	broad.mit.edu	37	16	15865511	15865511	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:15865511G>A	ENST00000338282.6	-	9	1054	c.948C>T	c.(946-948)ccC>ccT	p.P316P	MYH11_ENST00000576790.1_Silent_p.P316P|MYH11_ENST00000452625.2_Silent_p.P323P|MYH11_ENST00000396324.3_Silent_p.P323P|MYH11_ENST00000300036.5_Silent_p.P316P	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGCTGGGATGGGCACAAAGC	0.517000			T	CBFB	AML								15	41					0	0	0.004007	0	0
UNC5A	90249	broad.mit.edu	37	5	176295796	176295796	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:176295796C>A	ENST00000329542.4	+	5	826	c.552C>A	c.(550-552)ctC>ctA	p.L184L	UNC5A_ENST00000261961.3_Silent_p.L144L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	184	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGTGGCTCCGGAACGAGG	0.682000													11	36					9.31168e-06	1.04756e-05	0.001855	1	0
NPR3	4883	broad.mit.edu	37	5	32774833	32774833	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:32774833G>C	ENST00000265074.8	+	4	1422	c.1079G>C	c.(1078-1080)gGa>gCa	p.G360A	NPR3_ENST00000415685.2_Missense_Mutation_p.G144A|NPR3_ENST00000415167.2_Missense_Mutation_p.G360A|NPR3_ENST00000434067.2_Missense_Mutation_p.G144A	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	360					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTTGTTGAAGGATTCCACGAT	0.438000													21	218					0	0	0.010504	0	0
ZP4	57829	broad.mit.edu	37	1	238050811	238050811	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:238050811T>C	ENST00000366570.4	-	5	762	c.604A>G	c.(604-606)Aac>Gac	p.N202D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	202	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAGGTCACGTTCCGAGACACA	0.527000													43	74					0	0	0.014410	0	0
BCKDHB	594	broad.mit.edu	37	6	80816606	80816606	+	Splice_Site	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:80816606G>C	ENST00000545529.1	+	1	224	c.196_splice	c.e1+1	p.G66_splice	BCKDHB_ENST00000320393.6_Splice_Site_p.G66_splice|BCKDHB_ENST00000356489.5_Splice_Site_p.G66_splice|BCKDHB_ENST00000369760.4_Splice_Site_p.G66_splice			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	66					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CCGGGAGTACGGTGAGCCCTG	0.701000													3	5					0	0	0.004672	0	0
RASAL1	8437	broad.mit.edu	37	12	113559399	113559399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:113559399C>A	ENST00000546530.1	-	6	628	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	RASAL1_ENST00000548055.1_Nonsense_Mutation_p.E115*|RASAL1_ENST00000261729.5_Nonsense_Mutation_p.E115*|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.E115*	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	115					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCCTGCACTTCTGCATCTGGG	0.557000													4	58					0.00909568	0.00946693	0.009096	1	0
PTGIR	5739	broad.mit.edu	37	19	47124810	47124810	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:47124810G>T	ENST00000291294.2	-	3	1021	c.888C>A	c.(886-888)cgC>cgA	p.R296R	PTGIR_ENST00000598865.1_Silent_p.R84R|PTGIR_ENST00000597185.1_Silent_p.R25R|PTGIR_ENST00000594275.1_Silent_p.R53R	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	296					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	AGACAGCCTTGCGGAAAAGGA	0.632000													19	29					3.99206e-14	5.22038e-14	0.007413	1	0
GPRASP2	114928	broad.mit.edu	37	X	101970387	101970387	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:101970387G>T	ENST00000543253.1	+	5	1509	c.590G>T	c.(589-591)gGa>gTa	p.G197V	GPRASP2_ENST00000535209.1_Missense_Mutation_p.G197V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.G197V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCCTGGTTTGGACCAGGGGAG	0.527000													34	141					4.3181e-19	6.09848e-19	0.013726	1	0
GFPT1	2673	broad.mit.edu	37	2	69565628	69565628	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:69565628T>A	ENST00000357308.4	-	14	1451	c.1273A>T	c.(1273-1275)Aga>Tga	p.R425*	GFPT1_ENST00000361060.4_Nonsense_Mutation_p.R407*	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	425	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GGTGTGTTTCTGTCCAGGAAG	0.398000													6	25					0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934621	9934621	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:9934621G>A	ENST00000396573.2	-	8	1843	c.1534C>T	c.(1534-1536)Ctc>Ttc	p.L512F	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L512F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L512F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L512F|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L355F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L512F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	512	Glutamate binding (By similarity).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGATGGTGAGCGAGCCAACT	0.443000													10	28					0	0	0.008291	0	0
BAZ1A	11177	broad.mit.edu	37	14	35262077	35262077	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:35262077C>T	ENST00000360310.1	-	12	1981	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	BAZ1A_ENST00000382422.2_Missense_Mutation_p.E472K|BAZ1A_ENST00000358716.4_Missense_Mutation_p.E472K	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	472	DDT.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAAAGCAATTCACACAGTGGG	0.383000													7	34					0	0	0.003080	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588558	138588558	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:138588558G>T	ENST00000298466.5	-	5	621	c.561C>A	c.(559-561)tcC>tcA	p.S187S	SOHLH1_ENST00000425225.1_Silent_p.S187S	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	187					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCCACTGCCTGGAGGACGCAA	0.652000													13	23					1.5842e-08	1.89856e-08	0.001855	1	0
GREB1	9687	broad.mit.edu	37	2	11758583	11758583	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:11758583C>G	ENST00000381486.2	+	22	3882	c.3582C>G	c.(3580-3582)ccC>ccG	p.P1194P	GREB1_ENST00000234142.5_Silent_p.P1194P|GREB1_ENST00000396123.1_Silent_p.P192P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1194	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCACAGTCCCGGGCCGACGC	0.716000													4	9					0	0	0.009096	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337384	13337384	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:13337384G>T	ENST00000380622.2	-	1	1134	c.670C>A	c.(670-672)Caa>Aaa	p.Q224K	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	224					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCCTCATCTTGGTCTGATGTT	0.383000													68	228					4.98926e-31	7.36357e-31	0.014410	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	G	A	rs11261835	by1000genomes	TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:43627428G>A	ENST00000332857.6	-	4	1287	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P420L(1)									GTGCAGAGAGGGGAGGCCCCA	0.498000													4	35					0	0	0.009096	0	0
RNF180	285671	broad.mit.edu	37	5	63509437	63509437	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:63509437G>T	ENST00000389100.4	+	4	356	c.284G>T	c.(283-285)gGg>gTg	p.G95V	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.G95V	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	95						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		GCCCGTTTAGGGGGCTTTAAT	0.458000													29	169					2.61193e-14	3.44505e-14	0.009535	1	0
FLG	2312	broad.mit.edu	37	1	152280700	152280700	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:152280700C>A	ENST00000368799.1	-	3	6697	c.6662G>T	c.(6661-6663)aGa>aTa	p.R2221I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2221	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTGAGTGTCTAGAGCTGTC	0.547000									Ichthyosis				138	203					3.29933e-67	4.949e-67	0.014410	1	0
DNAH17	8632	broad.mit.edu	37	17	76526495	76526495	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:76526495C>G	ENST00000389840.5	-	21	3338	c.3214G>C	c.(3214-3216)Gcc>Ccc	p.A1072P	DNAH17_ENST00000585328.1_Missense_Mutation_p.A1069P					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGAGCAGGGCCTGCTTGAAG	0.617000													11	49					0	0	0.008291	0	0
EPHA8	2046	broad.mit.edu	37	1	22927868	22927868	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:22927868G>T	ENST00000166244.3	+	16	2877	c.2805G>T	c.(2803-2805)gtG>gtT	p.V935V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	935	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTCACCGTGGGGGACTGGC	0.677000													28	59					9.39395e-14	1.21119e-13	0.006320	1	0
SPIN4	139886	broad.mit.edu	37	X	62570542	62570542	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:62570542T>A	ENST00000374884.2	-	1	681	c.103A>T	c.(103-105)Aac>Tac	p.N35Y	SPIN4_ENST00000335144.3_Missense_Mutation_p.N53Y|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4	53					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						ACTGGCTCGTTGCCTTCCTTC	0.527000													7	23					0	0	0.003080	0	0
TPR	7175	broad.mit.edu	37	1	186344044	186344044	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:186344044C>T	ENST00000367478.3	-	1	413	c.117G>A	c.(115-117)ctG>ctA	p.L39L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	39					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCCGCCCCTTCAGGCCATCGA	0.537000			T	NTRK1	papillary thyroid								34	39					0	0	0.003755	0	0
KCNH7	90134	broad.mit.edu	37	2	163241415	163241415	+	Silent	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:163241415A>G	ENST00000332142.5	-	13	2844	c.2745T>C	c.(2743-2745)gaT>gaC	p.D915D		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	915					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTCTTATGGTATCTGCAGAGT	0.353000													7	48					0	0	0.001984	0	0
TENM4	26011	broad.mit.edu	37	11	78431415	78431415	+	Splice_Site	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:78431415C>T	ENST00000278550.7	-	25	4283	c.3821_splice	c.e25+1	p.S1274_splice		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTTGGCTTACCTATGTCTGAA	0.443000													21	58					0	0	0.014323	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631807	122631807	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:122631807C>G	ENST00000195173.4	-	18	2908	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.E870Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E924Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	870	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AAGCCCAGCTCGCAGTCCCGG	0.726000													9	37					0	0	0.004482	0	0
OR6F1	343169	broad.mit.edu	37	1	247875228	247875228	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:247875228A>T	ENST00000302084.2	-	1	877	c.830T>A	c.(829-831)cTg>cAg	p.L277Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CACAGTGTTCAGGACGTGGAC	0.453000													31	63					0	0	0.008361	0	0
GPX3	2878	broad.mit.edu	37	5	150405018	150405018	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:150405018G>A	ENST00000388825.4	+	2	297	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Intron	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	69					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CTTTGTCAACGTGGCCAGCTA	0.522000													4	71					0	0	0.009096	0	0
CXorf36	79742	broad.mit.edu	37	X	45013318	45013318	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:45013318G>T	ENST00000398000.2	-	4	872	c.798C>A	c.(796-798)gaC>gaA	p.D266E	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	266						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GGTAGGCAAGGTCGGCTGCCT	0.557000													9	73					7.48243e-07	8.62923e-07	0.006214	1	0
CADM2	253559	broad.mit.edu	37	3	86010666	86010666	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:86010666C>A	ENST00000383699.3	+	8	1466	c.839C>A	c.(838-840)cCt>cAt	p.P280H	CADM2_ENST00000407528.2_Missense_Mutation_p.P271H|CADM2_ENST00000405615.2_Missense_Mutation_p.P273H	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	271	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTACCAGATCCTGACCGAATG	0.403000													17	33					6.44725e-10	7.89144e-10	0.014323	1	0
CROCC	9696	broad.mit.edu	37	1	17250965	17250965	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:17250965C>T	ENST00000375541.5	+	3	411	c.342C>T	c.(340-342)gtC>gtT	p.V114V	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	114					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAATGCGGTCAGCGAGAGGG	0.652000													12	22					0	0	0.010729	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47241556	47241556	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:47241556C>A	ENST00000300404.2	+	8	1112	c.1053C>A	c.(1051-1053)acC>acA	p.T351T	B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	351					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.T351T(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAGACTTGACCGTAATAGTGG	0.483000													57	134					9.59835e-30	1.41206e-29	0.014410	1	0
OPN1LW	5956	broad.mit.edu	37	X	153420089	153420089	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:153420089G>C	ENST00000369951.4	+	4	679	c.619G>C	c.(619-621)Gtg>Ctg	p.V207L	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	207					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCCCAGACGTGTTCAGCGG	0.622000													15	87					0	0	0.002780	0	0
C15orf59	388135	broad.mit.edu	37	15	74032288	74032288	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr15:74032288G>T	ENST00000569673.1	-	3	2056	c.852C>A	c.(850-852)gcC>gcA	p.A284A	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.A284A			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	284										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTGTCTAGTGGCTGTGTAGG	0.527000													57	97					1.3268e-25	1.93334e-25	0.014410	1	0
XYLT1	64131	broad.mit.edu	37	16	17211698	17211698	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:17211698C>T	ENST00000261381.6	-	11	2446	c.2362G>A	c.(2362-2364)Gtc>Atc	p.V788I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	788					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGACATTGACGGGATCCACC	0.572000													14	52					0	0	0.001855	0	0
GYPC	2995	broad.mit.edu	37	2	127453545	127453545	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:127453545G>T	ENST00000259254.4	+	4	545	c.214G>T	c.(214-216)Gtc>Ttc	p.V72F	GYPC_ENST00000356887.7_Missense_Mutation_p.V51F|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Missense_Mutation_p.V53F	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	72						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TGTGGCCATCGTCCTAGTCTC	0.607000													27	90					1.77063e-15	2.36256e-15	0.005443	1	0
WNT9A	7483	broad.mit.edu	37	1	228112026	228112026	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:228112026G>T	ENST00000272164.5	-	3	438	c.428C>A	c.(427-429)gCg>gAg	p.A143E	WNT9A_ENST00000497852.1_5'UTR	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	143					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CATGCGGCCCGCGCTGCACGC	0.652000													30	67					7.38237e-10	8.9643e-10	0.006320	1	0
PYHIN1	149628	broad.mit.edu	37	1	158911901	158911901	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:158911901G>A	ENST00000368140.1	+	5	959	c.714G>A	c.(712-714)atG>atA	p.M238I	PYHIN1_ENST00000392252.3_Missense_Mutation_p.M229I|PYHIN1_ENST00000392254.2_Missense_Mutation_p.M238I|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.M229I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	238	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAAGAAGAATGTTTCATGCTA	0.328000													14	21					0	0	0.003163	0	0
ANK2	287	broad.mit.edu	37	4	114277965	114277965	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:114277965G>A	ENST00000357077.4	+	38	8244	c.8191G>A	c.(8191-8193)Ggc>Agc	p.G2731S	ANK2_ENST00000264366.6_Missense_Mutation_p.G2698S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2698					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		GGAAGAGCCAGGCAAATCAGA	0.413000													19	34					0	0	0.006122	0	0
CDH18	1016	broad.mit.edu	37	5	19543986	19543986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:19543986G>T	ENST00000507958.1	-	11	2372	c.1382C>A	c.(1381-1383)tCa>tAa	p.S461*	CDH18_ENST00000506372.1_Nonsense_Mutation_p.S461*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.S461*|CDH18_ENST00000511273.1_Nonsense_Mutation_p.S461*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.S461*|CDH18_ENST00000502796.1_Nonsense_Mutation_p.S461*			Q13634	CAD18_HUMAN	cadherin 18, type 2	461	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCAATTTCTGAAGCAGTGAC	0.373000													19	45					0.000175454	0.000190838	0.010504	1	0
OR8B8	26493	broad.mit.edu	37	11	124310805	124310805	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:124310805C>A	ENST00000328064.2	-	1	249	c.177G>T	c.(175-177)atG>atT	p.M59I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAAGAAGTACATAGGGGTGT	0.448000													7	57					0.000157383	0.000171589	0.003080	1	0
RYR2	6262	broad.mit.edu	37	1	237756921	237756921	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:237756921G>T	ENST00000366574.2	+	33	4738	c.4421G>T	c.(4420-4422)gGa>gTa	p.G1474V	RYR2_ENST00000360064.6_Missense_Mutation_p.G1472V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1458V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1474	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGAAAAAGGAAAAGTGCAT	0.383000													11	38					3.07112e-06	3.50657e-06	0.010729	1	0
GABBR2	9568	broad.mit.edu	37	9	101148033	101148033	+	Silent	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:101148033T>C	ENST00000259455.2	-	11	2010	c.1551A>G	c.(1549-1551)ccA>ccG	p.P517P		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	517					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGTTCATGTATGGACTCGACA	0.383000													8	19					0	0	0.003080	0	0
FAM83B	222584	broad.mit.edu	37	6	54805944	54805944	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:54805944C>G	ENST00000306858.7	+	5	2291	c.2175C>G	c.(2173-2175)acC>acG	p.T725T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	725										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGGAAGTTACCAAGAGAAACT	0.393000													22	42					0	0	0.002780	0	0
LAMC1	3915	broad.mit.edu	37	1	183090875	183090875	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:183090875G>C	ENST00000258341.4	+	12	2265	c.2008G>C	c.(2008-2010)Gat>Cat	p.D670H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	670	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATATTTGGATGATGTCACCCT	0.473000													3	29					0	0	0.009096	0	0
SPEF2	79925	broad.mit.edu	37	5	35712959	35712959	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:35712959A>C	ENST00000440995.2	+	20	2870	c.2870A>C	c.(2869-2871)aAg>aCg	p.K957T	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.K962T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	962					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAAAGGGAAGAAAGGTGAG	0.353000													34	27					0	0	0.004878	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123920	26123920	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:26123920A>C	ENST00000314332.5	-	1	218	c.213T>G	c.(211-213)ttT>ttG	p.F71L	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.F71L			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CGATGCGCTCAAATATGTCGT	0.572000													70	100					0	0	0.014410	0	0
OR51V1	283111	broad.mit.edu	37	11	5221760	5221760	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:5221760C>A	ENST00000321255.1	-	1	170	c.171G>T	c.(169-171)gtG>gtT	p.V57V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTCCATATCACATGGAGAA	0.527000													22	21					5.35356e-11	6.64131e-11	0.002780	1	0
HACE1	57531	broad.mit.edu	37	6	105233031	105233031	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:105233031G>A	ENST00000262903.4	-	12	1514	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L	HACE1_ENST00000369125.2_Missense_Mutation_p.P413L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	413					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAGCTCCCAGGTCCTGGAGG	0.433000													15	31					0	0	0.003163	0	0
UBAP2L	9898	broad.mit.edu	37	1	154207096	154207096	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:154207096G>T	ENST00000428931.1	+	5	476	c.309G>T	c.(307-309)aaG>aaT	p.K103N	UBAP2L_ENST00000343815.6_Missense_Mutation_p.K103N|UBAP2L_ENST00000271877.7_Missense_Mutation_p.K103N|UBAP2L_ENST00000361546.2_Missense_Mutation_p.K103N	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	103					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAAGAAGAAGGGAGTCTCAG	0.507000													14	29					4.93089e-13	6.26947e-13	0.002450	1	0
EGFR	1956	broad.mit.edu	37	7	55224477	55224477	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:55224477C>A	ENST00000275493.2	+	10	1336	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	EGFR_ENST00000454757.2_Missense_Mutation_p.L334M|EGFR_ENST00000342916.3_Missense_Mutation_p.L387M|EGFR_ENST00000442591.1_Missense_Mutation_p.L387M|EGFR_ENST00000420316.2_Missense_Mutation_p.L387M|EGFR_ENST00000344576.2_Missense_Mutation_p.L387M|EGFR_ENST00000455089.1_Missense_Mutation_p.L342M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	387					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L387V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACTCCTCCTCTGGATCCACA	0.363000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			37	30					1.04594e-18	1.46368e-18	0.006230	1	0
OR5A1	219982	broad.mit.edu	37	11	59211268	59211268	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:59211268C>T	ENST00000302030.2	+	1	652	c.627C>T	c.(625-627)gtC>gtT	p.V209V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGGTCACTGTCGGAGGAACAT	0.527000													39	146					0	0	0.004289	0	0
MAMDC2	256691	broad.mit.edu	37	9	72783656	72783656	+	Silent	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:72783656T>C	ENST00000377182.4	+	10	2060	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C	MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	481	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTGGGACTGTGGGCTTGTAG	0.398000													6	12					0	0	0.001168	0	0
MORC3	23515	broad.mit.edu	37	21	37741749	37741749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr21:37741749C>T	ENST00000400485.1	+	15	2159	c.2083C>T	c.(2083-2085)Caa>Taa	p.Q695*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	695					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TGCAGGCTGCCAATTACAAGA	0.398000													20	20					0	0	0.007413	0	0
PGGT1B	5229	broad.mit.edu	37	5	114588852	114588852	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:114588852C>A	ENST00000419445.1	-	2	261	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F	PGGT1B_ENST00000379615.3_Missense_Mutation_p.V81F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	81					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GTGGGAAGGACCTGCAGGGAA	0.388000													12	44					6.42651e-13	8.12609e-13	0.010729	1	0
PRDM8	56978	broad.mit.edu	37	4	81123069	81123069	+	Splice_Site	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:81123069G>T	ENST00000339711.4	+	10	1684	c.451_splice	c.e10-1	p.G151_splice	PRDM8_ENST00000504452.1_Splice_Site_p.G151_splice|PRDM8_ENST00000415738.2_Splice_Site_p.G151_splice	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						ACTAAGCAGGGTCGTCCCCTT	0.562000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	54					1.64293e-13	2.10058e-13	0.003330	1	0
PRMT6	55170	broad.mit.edu	37	1	107600045	107600045	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:107600045C>G	ENST00000361318.5	+	1	779	c.531C>G	c.(529-531)atC>atG	p.I177M	PRMT6_ENST00000370078.1_Missense_Mutation_p.I236M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	236					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		ACTCGGAGATCGTTGTGCAGG	0.672000													10	70					0	0	0.010729	0	0
DOCK7	85440	broad.mit.edu	37	1	62961329	62961329	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:62961329G>A	ENST00000251157.5	-	39	4953	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L	DOCK7_ENST00000340370.5_Silent_p.L1618L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1649	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAATCATATGGAGATTGAAAA	0.333000													3	20					0	0	0.004672	0	0
ZNF536	9745	broad.mit.edu	37	19	31040177	31040177	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:31040177C>A	ENST00000355537.3	+	4	3798	c.3651C>A	c.(3649-3651)ccC>ccA	p.P1217P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCCCAGCCCGTCCAGGGAC	0.627000													9	46					7.48243e-07	8.62923e-07	0.006214	1	0
CRMP1	1400	broad.mit.edu	37	4	5857888	5857888	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr4:5857888C>T	ENST00000324989.7	-	4	890	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	CRMP1_ENST00000397890.2_Missense_Mutation_p.V154M|CRMP1_ENST00000512574.1_Missense_Mutation_p.V152M|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	154					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGCACCAGCACCTCCAGCTCC	0.522000													10	49					0	0	0.010729	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156910211	156910211	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:156910211C>T	ENST00000368194.3	-	36	4560	c.3521G>A	c.(3520-3522)gGg>gAg	p.G1174E	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G550E|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1134E	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1134					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.G1174V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCTGGGACCCAGTGCCTGT	0.602000													8	53					0	0	0.004482	0	0
ABCC10	89845	broad.mit.edu	37	6	43400666	43400666	+	Silent	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:43400666G>C	ENST00000244533.3	+	1	1178	c.819G>C	c.(817-819)ggG>ggC	p.G273G	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.G316G	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	316						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGAAGAGGGGCAGGAGCCAC	0.592000													21	43					0	0	0.008871	0	0
HERC2	8924	broad.mit.edu	37	15	28389852	28389852	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr15:28389852G>C	ENST00000261609.7	-	72	11215	c.11107C>G	c.(11107-11109)Cgc>Ggc	p.R3703G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3703					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGTGAAGCGCCAGCCCCAG	0.567000													11	32					0	0	0.001855	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563434	140563434	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:140563434G>C	ENST00000361016.2	+	1	2455	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		434	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACGGAGCACAACAT	0.502000													28	133					0	0	0.005443	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699969	153699969	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:153699969G>A	ENST00000369682.3	+	32	5683	c.5508G>A	c.(5506-5508)aaG>aaA	p.K1836K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1836					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGTCACCAAGTACCGCCAGG	0.587000													23	50					0	0	0.014323	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187374	37187374	+	RNA	SNP	T	T	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr17:37187374T>G	ENST00000425901.2	+	0	1216					NR_033753.2																						AACCATGTTTTTTTCCTCCAA	0.488000													5	15					0	0	0.000602	0	0
C2orf57	165100	broad.mit.edu	37	2	232458229	232458229	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:232458229C>T	ENST00000313965.2	+	1	655	c.567C>T	c.(565-567)acC>acT	p.T189T		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	189										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGCCAGCACCACCAAGTCTG	0.582000													34	27					0	0	0.013726	0	0
MPPED1	758	broad.mit.edu	37	22	43831029	43831029	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr22:43831029G>T	ENST00000417669.1	+	3	744	c.300G>T	c.(298-300)tcG>tcT	p.S100S	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Silent_p.S100S|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Silent_p.S133S|MPPED1_ENST00000443721.1_Silent_p.S100S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	100							hydrolase activity	p.S100S(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ATACCCACTCGAGGACGGACC	0.627000													44	82					9.84934e-19	1.38252e-18	0.010771	1	0
MED12	9968	broad.mit.edu	37	X	70348450	70348450	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:70348450C>A	ENST00000333646.6	+	24	3556	c.3357C>A	c.(3355-3357)gtC>gtA	p.V1119V	MED12_ENST00000374102.1_Silent_p.V1119V|MED12_ENST00000374080.3_Silent_p.V1119V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1119					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCTCCAGGTCAGTGACCTAT	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	37					2.5808e-16	3.47386e-16	0.006122	1	0
SUSD3	203328	broad.mit.edu	37	9	95846817	95846817	+	Splice_Site	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:95846817A>T	ENST00000375472.3	+	5	593		c.e5-1		SUSD3_ENST00000375469.1_Splice_Site	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CTCTCTCCACAGAGACCATGG	0.602000													18	27					0	0	0.008871	0	0
FAM173A	65990	broad.mit.edu	37	16	771923	771923	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:771923C>T	ENST00000564000.1	+	3	568	c.390C>T	c.(388-390)cgC>cgT	p.R130R	FAM173A_ENST00000569529.1_Silent_p.R130R|FAM173A_ENST00000219535.3_Silent_p.R130R			Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	130						integral to membrane				pancreas(1)	1						TCTGCTATCGCCGCAAGGATC	0.721000													6	6					0	0	0.001168	0	0
PDIA4	9601	broad.mit.edu	37	7	148703045	148703045	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:148703045C>A	ENST00000286091.4	-	8	1464	c.1232G>T	c.(1231-1233)aGg>aTg	p.R411M		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	411					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CAGGGGGCGCCTGGTGTAGCG	0.632000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	38					3.83957e-06	4.37311e-06	0.002780	1	0
OR4A16	81327	broad.mit.edu	37	11	55111023	55111023	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:55111023T>A	ENST00000314721.2	+	1	397	c.347T>A	c.(346-348)aTg>aAg	p.M116K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M116T(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGGTGGTGATGGCCTATGAT	0.458000													29	124					0	0	0.008361	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845802	130845802	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:130845802C>A	ENST00000245255.3	+	15	2015	c.1743C>A	c.(1741-1743)acC>acA	p.T581T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	581	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTGCCCTACCCCAAGTCAGT	0.453000													7	33					5.18039e-06	5.88564e-06	0.003080	1	0
ZNF606	80095	broad.mit.edu	37	19	58490876	58490876	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:58490876G>C	ENST00000341164.4	-	7	1792	c.1172C>G	c.(1171-1173)aCa>aGa	p.T391R	ZNF606_ENST00000536132.1_Missense_Mutation_p.T301R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTAAGTGCTTGTATGTTGAGT	0.373000													11	53					0	0	0.008291	0	0
FBXO21	23014	broad.mit.edu	37	12	117595761	117595761	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:117595761C>G	ENST00000427718.2	-	10	1508	c.1434G>C	c.(1432-1434)gaG>gaC	p.E478D	FBXO21_ENST00000330622.5_Missense_Mutation_p.E485D	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	485					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CTACGCCCACCTCCTCCTTTT	0.577000													33	150					0	0	0.004289	0	0
XRN1	54464	broad.mit.edu	37	3	142141705	142141705	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:142141705T>C	ENST00000264951.4	-	7	887	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	XRN1_ENST00000544157.1_Missense_Mutation_p.Y47C|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257C|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257C	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAGTCAATATACTCTCTCAT	0.328000													13	30					0	0	0.001855	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721990	135721990	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:135721990C>G	ENST00000264977.3	+	2	2267	c.1650C>G	c.(1648-1650)acC>acG	p.T550T	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	550					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCGGTCAGACCCTTGTAGATC	0.388000													7	23					0	0	0.001984	0	0
ZNF222	7673	broad.mit.edu	37	19	44536246	44536246	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:44536246C>G	ENST00000187879.8	+	4	581	c.419C>G	c.(418-420)tCa>tGa	p.S140*	ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S180*|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CAGTTATATTCAGGAGAGAAG	0.403000													23	72					0	0	0.012319	0	0
BCAM	4059	broad.mit.edu	37	19	45322414	45322414	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:45322414G>T	ENST00000391955.1	+	11	1482	c.1438G>T	c.(1438-1440)Gac>Tac	p.D480Y	BCAM_ENST00000270233.6_Missense_Mutation_p.D480Y			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	480	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGGCCATCCAGACCCCAAACT	0.592000													23	77					2.52088e-20	3.61588e-20	0.002780	1	0
TSIX	9383	broad.mit.edu	37	X	73046187	73046187	+	RNA	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:73046187G>A	ENST00000604411.1	+	0	34148				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTGCTCCTGAGGGAAGTTAAC	0.403000													7	39					0	0	0.001984	0	0
OR52B2	255725	broad.mit.edu	37	11	6190980	6190980	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:6190980C>T	ENST00000530810.1	-	1	658	c.577G>A	c.(577-579)Gac>Aac	p.D193N	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGTGATGTCAGCACAGGCT	0.488000													11	5					0	0	0.008291	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840147	27840147	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:27840147G>T	ENST00000356790.2	+	3	969	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	242	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CTTCATGTTTGGGGAGCCCAG	0.453000													11	29					3.86212e-05	4.2716e-05	0.008291	1	0
NFATC4	4776	broad.mit.edu	37	14	24839538	24839538	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:24839538C>T	ENST00000413692.2	+	3	1267	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	NFATC4_ENST00000556169.1_Missense_Mutation_p.P300S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554966.1_Missense_Mutation_p.P325S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P325S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P375S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P300S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P300S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P312S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P344S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P242S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P242S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P242S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P242S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P344S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P325S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P312S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P312S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P344S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	312					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCGGGCTCCCCTGGTCCCTT	0.677000													10	42					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9009600	9009600	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr19:9009600G>T	ENST00000397910.4	-	39	39329	c.39126C>A	c.(39124-39126)gtC>gtA	p.V13042V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13044	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCCTGCAGGACCCTCTCTG	0.552000													17	59					3.41278e-10	4.19964e-10	0.004990	1	0
EHBP1	23301	broad.mit.edu	37	2	63176238	63176238	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:63176238G>A	ENST00000263991.5	+	14	2844	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N	EHBP1_ENST00000405289.1_Missense_Mutation_p.D753N|EHBP1_ENST00000405015.3_Missense_Mutation_p.D753N|EHBP1_ENST00000354487.3_Missense_Mutation_p.D753N|EHBP1_ENST00000431489.1_Missense_Mutation_p.D753N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	788						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GACGGAGTCTGATCCAGATGC	0.353000													15	32					0	0	0.002450	0	0
TPH2	121278	broad.mit.edu	37	12	72388341	72388341	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:72388341C>A	ENST00000333850.3	+	8	1205	c.1064C>A	c.(1063-1065)gCc>gAc	p.A355D		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	355					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAGAAACTAGCCACGGTGAGT	0.393000													17	15					4.7546e-09	5.72799e-09	0.004007	1	0
INHBE	83729	broad.mit.edu	37	12	57850009	57850009	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:57850009G>T	ENST00000266646.2	+	2	647	c.431G>T	c.(430-432)cGa>cTa	p.R144L	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	144					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AGGATCTTCCGATGGGGACCA	0.617000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	154					3.80469e-20	5.44036e-20	0.009535	1	0
FRS2	10818	broad.mit.edu	37	12	69967839	69967839	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:69967839A>G	ENST00000299293.2	+	10	1141	c.631A>G	c.(631-633)Agt>Ggt	p.S211G	FRS2_ENST00000549921.1_Missense_Mutation_p.S211G|FRS2_ENST00000397997.2_Missense_Mutation_p.S211G|FRS2_ENST00000550389.1_Missense_Mutation_p.S211G	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	211					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAACCGCACAAGTGTGCATGT	0.408000													7	44					0	0	0.001984	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174788	207174788	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:207174788C>T	ENST00000374423.3	+	5	5922	c.5536C>T	c.(5536-5538)Ctg>Ttg	p.L1846L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1846							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						AATTAATGCTCTGGTGAAGGA	0.413000													13	23					0	0	0.013537	0	0
INSC	387755	broad.mit.edu	37	11	15260566	15260566	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:15260566C>A	ENST00000379554.3	+	11	1526	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	INSC_ENST00000528567.1_Missense_Mutation_p.L447M|INSC_ENST00000424273.1_Missense_Mutation_p.L405M|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.L405M|INSC_ENST00000379556.3_Missense_Mutation_p.L447M|INSC_ENST00000530161.1_Missense_Mutation_p.L447M	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	494					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCAGTGACCCTGGCTCGTCT	0.602000													23	7					1.90627e-21	2.7515e-21	0.012319	1	0
TMC5	79838	broad.mit.edu	37	16	19498557	19498557	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:19498557C>T	ENST00000396229.2	+	17	3231	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	828						integral to membrane		p.R828W(1)|p.R582W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAAGCCTGGCGGGCCTCACA	0.567000													25	19					0	0	0.003330	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149008500	149008500	+	Silent	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:149008500C>T	ENST00000333677.6	+	12	1952	c.1789C>T	c.(1789-1791)Cta>Tta	p.L597L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	597					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CAGCCCAGCTCTAGTGCCCTC	0.592000													15	21					0	0	0.002450	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714097	81714097	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:81714097G>C	ENST00000356860.3	-	7	984	c.646C>G	c.(646-648)Cga>Gga	p.R216G	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R216G|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R216G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	216						voltage-gated calcium channel complex	metal ion binding			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)	GGATAATATCGAGCTAGGCCA	0.423000													8	32					0	0	0.006214	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16863110	16863110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:16863110G>A	ENST00000355661.3	-	9	866	c.856C>T	c.(856-858)Cga>Tga	p.R286*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R286*|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R286*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	286					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGTGACGATCGAGACAGCACC	0.567000													7	56					0	0	0.004482	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455574	84455574	+	Silent	SNP	A	A	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr13:84455574A>T	ENST00000377084.2	-	1	954	c.69T>A	c.(67-69)gtT>gtA	p.V23V		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	23	LRRNT.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTCTTTGCAAACGTCCCCTG	0.473000													21	17					0	0	0.014323	0	0
ATG5	9474	broad.mit.edu	37	6	106727555	106727555	+	Silent	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:106727555G>A	ENST00000369076.3	-	5	782	c.459C>T	c.(457-459)ctC>ctT	p.L153L	ATG5_ENST00000369070.1_Silent_p.L75L|ATG5_ENST00000343245.3_Silent_p.L153L|ATG5_ENST00000360666.4_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	153					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		ATCCCATCCAGAGTTGCTTGT	0.303000													7	29					0	0	0.003080	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837248	12837248	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:12837248C>A	ENST00000357726.4	+	3	985	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	320										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCATCCGTCAGCTAAAAGA	0.582000													33	130					8.4185e-14	1.09464e-13	0.012213	1	0
TIE1	7075	broad.mit.edu	37	1	43775150	43775150	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:43775150G>A	ENST00000372476.3	+	9	1359	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	TIE1_ENST00000433781.2_Missense_Mutation_p.R72H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	427					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R427H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGAGTGCCGTGTGTCCACA	0.572000													8	37					0	0	0.004482	0	0
CCNJL	79616	broad.mit.edu	37	5	159680645	159680645	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:159680645C>T	ENST00000393977.3	-	7	1333	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	CCNJL_ENST00000257536.7_Missense_Mutation_p.V302M|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	350						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTCCTGCACGGGGGTCTGG	0.677000													28	33					0	0	0.006320	0	0
ZFP57	346171	broad.mit.edu	37	6	29640726	29640726	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:29640726G>A	ENST00000376883.1	-	6	1513	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	ZFP57_ENST00000376881.3_Missense_Mutation_p.H368Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.H388Y			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	304					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AAAGAACAATGGGGGCAACAG	0.517000													51	265					0	0	0.014410	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351192	35351192	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:35351192G>C	ENST00000373347.1	-	7	2069	c.1801C>G	c.(1801-1803)Ccg>Gcg	p.P601A	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P601A			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	601					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCCGGGGCGGCACCGGCGCC	0.761000													7	10					0	0	0.001984	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73148476	73148476	+	Splice_Site	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:73148476G>T	ENST00000545377.1	+	14	1925	c.1747_splice	c.e14-1	p.E583_splice	ARHGEF28_ENST00000426542.2_Splice_Site_p.E583_splice|ARHGEF28_ENST00000437974.1_Splice_Site_p.E583_splice|ARHGEF28_ENST00000296794.6_Splice_Site_p.E583_splice|ARHGEF28_ENST00000287898.5_Splice_Site_p.E583_splice|ARHGEF28_ENST00000296799.4_Splice_Site_p.E270_splice|ARHGEF28_ENST00000513042.2_Splice_Site_p.E583_splice	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GTCTTGTAGAGCAAAGAGCTT	0.373000													31	67					2.42023e-17	3.31608e-17	0.003271	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870753	51870753	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr20:51870753C>A	ENST00000371497.5	+	2	1643	c.756C>A	c.(754-756)ccC>ccA	p.P252P	TSHZ2_ENST00000603338.2_Silent_p.P249P|TSHZ2_ENST00000329613.6_Silent_p.P249P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	252					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCTCAGACCCACGAGCTATT	0.483000													9	29					0.00448238	0.00474058	0.004482	1	0
FLT3	2322	broad.mit.edu	37	13	28588591	28588591	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr13:28588591C>T	ENST00000380982.4	-	23	2947	c.2866G>A	c.(2866-2868)Gcg>Acg	p.A956T	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.A953T|FLT3_ENST00000537084.1_Missense_Mutation_p.A912T			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	953					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTACATACCGCTTCTTCTGCA	0.418000			"""Mis, O"""		"""AML, ALL"""								5	10					0	0	0.001168	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552496	140552496	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:140552496G>T	ENST00000231137.3	+	1	254	c.80G>T	c.(79-81)gGc>gTc	p.G27V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		27					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGGGCTGGCGCCGAACCG	0.502000													40	60					4.32679e-17	5.87573e-17	0.006999	1	0
SPTA1	6708	broad.mit.edu	37	1	158613152	158613152	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:158613152T>A	ENST00000368148.3	-	31	4582	c.4402A>T	c.(4402-4404)Aaa>Taa	p.K1468*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.K1468*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1468					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTCTTCTTTGGCATAGTGT	0.443000													20	36					0	0	0.012319	0	0
GCLC	2729	broad.mit.edu	37	6	53387311	53387311	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr6:53387311C>A	ENST00000229416.6	-	2	648	c.165G>T	c.(163-165)ttG>ttT	p.L55F	GCLC_ENST00000514004.1_Missense_Mutation_p.L55F	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	55			L -> S (in dbSNP:rs2066512).		anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CAAAAGATACCAACATGTATT	0.403000													3	35					0.004672	0.00492977	0.004672	1	0
TRBV27	28560	broad.mit.edu	37	7	142423633	142423633	+	RNA	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:142423633C>T	ENST00000506718.1	+	0	641				TRBV27_ENST00000390399.3_RNA																							CCCCCTGATCCTGGAGTCGCC	0.498000													6	43					0	0	0.001168	0	0
GALNT5	11227	broad.mit.edu	37	2	158115703	158115703	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:158115703C>T	ENST00000259056.4	+	1	1594	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	370					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCTTCCTCTTCACTTGCTCCA	0.413000													18	30					0	0	0.004990	0	0
AEBP1	165	broad.mit.edu	37	7	44144413	44144413	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:44144413G>A	ENST00000223357.3	+	1	454	c.149G>A	c.(148-150)cGg>cAg	p.R50Q		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	50	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCTGAGCCCCGGGAGGACGAC	0.726000													3	14					0	0	0.004672	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212723	26212723	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:26212723G>A	ENST00000379034.1	+	2	909	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	254	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAATTGAAAGAAATGGATTC	0.527000													20	53					0	0	0.008871	0	0
BSX	390259	broad.mit.edu	37	11	122848574	122848574	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr11:122848574C>T	ENST00000343035.2	-	3	533	c.485G>A	c.(484-486)cGg>cAg	p.R162Q		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	162										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		ATGCTTCATCCGCCGGTTCTG	0.532000													15	64					0	0	0.002450	0	0
OR6K6	128371	broad.mit.edu	37	1	158725561	158725561	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:158725561T>A	ENST00000368144.2	+	1	1052	c.956T>A	c.(955-957)cTg>cAg	p.L319Q		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATCTATAGCCTGAAAAACAAG	0.433000													17	65					0	0	0.006122	0	0
SARDH	1757	broad.mit.edu	37	9	136582475	136582475	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr9:136582475C>T	ENST00000371872.4	-	8	1380	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	SARDH_ENST00000439388.1_Missense_Mutation_p.G375R|SARDH_ENST00000422262.2_Missense_Mutation_p.G207R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	375					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GACTTGATTCCTGTCTTCTCC	0.587000													15	41					0	0	0.004990	0	0
ACAD10	80724	broad.mit.edu	37	12	112182571	112182571	+	Silent	SNP	G	G	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr12:112182571G>T	ENST00000455480.2	+	14	2109	c.1932G>T	c.(1930-1932)ccG>ccT	p.P644P	ACAD10_ENST00000392636.2_Silent_p.P215P|ACAD10_ENST00000549590.1_Silent_p.P613P|ACAD10_ENST00000313698.4_Silent_p.P613P|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	613							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TCACAAATCCGTTAACAAGGT	0.532000													19	41					6.94344e-10	8.45369e-10	0.006122	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090216	238090216	+	RNA	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:238090216C>A	ENST00000450451.1	+	0	1722					NR_027247.2																						GCCCCCCAAGCTGTGTTTCCC	0.602000													7	17					0.00198382	0.00212255	0.001984	1	0
IPO9	55705	broad.mit.edu	37	1	201839778	201839778	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:201839778A>G	ENST00000361565.4	+	18	2270	c.2201A>G	c.(2200-2202)gAg>gGg	p.E734G		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	734					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGCATGATGAGCAGGGCCAC	0.582000													15	51					0	0	0.002450	0	0
MCF2L2	23101	broad.mit.edu	37	3	183006944	183006944	+	Silent	SNP	C	C	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr3:183006944C>A	ENST00000328913.3	-	14	2037	c.1740G>T	c.(1738-1740)cgG>cgT	p.R580R	MCF2L2_ENST00000447025.2_Silent_p.R580R|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Silent_p.R580R|MCF2L2_ENST00000414362.2_Silent_p.R580R	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	580					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTTCCTTTCCCCGGGAGTTCA	0.403000													4	34					0.00024832	0.000268186	0.009096	1	0
SLC45A2	51151	broad.mit.edu	37	5	33944822	33944822	+	Silent	SNP	C	C	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:33944822C>G	ENST00000296589.4	-	7	1670	c.1524G>C	c.(1522-1524)gtG>gtC	p.V508V	SLC45A2_ENST00000342059.3_Silent_p.V449V	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	508					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACGCTGTGATCACCACGACGA	0.547000													11	51					0	0	0.010729	0	0
PTAFR	5724	broad.mit.edu	37	1	28476723	28476723	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:28476723delG	ENST00000373857.3	-	2	1444	c.810delC	c.(808-810)gcfs	p.A270fs	PTAFR_ENST00000305392.3_Frame_Shift_Del_p.A270fs|PTAFR_ENST00000539896.1_Frame_Shift_Del_p.A270fs	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	270					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CATCATTAATGGCCTGGTGGA	0.547													17	31	---	---	---	---					
LPPR4	9890	broad.mit.edu	37	1	99771495	99771495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr1:99771495delG	ENST00000370185.3	+	7	1718	c.1221delG	c.(1219-1221)aafs	p.K407fs	LPPR4_ENST00000370184.1_Frame_Shift_Del_p.K249fs|LPPR4_ENST00000457765.1_Frame_Shift_Del_p.K349fs	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		407							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCATGGGGAAGGAGAACATGG	0.483													17	48	---	---	---	---					
TTC31	64427	broad.mit.edu	37	2	74718451	74718451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr2:74718451delC	ENST00000410003.1	+	7	642	c.633delC	c.(631-633)agfs	p.S211fs	TTC31_ENST00000233623.5_Frame_Shift_Del_p.S211fs|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Frame_Shift_Del_p.S67fs			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	211							binding	p.P213fs*46(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAGATGAGAGCCCCCCATCCA	0.542													35	49	---	---	---	---					
TMEM161B	153396	broad.mit.edu	37	5	87492083	87492083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr5:87492083delA	ENST00000296595.6	-	12	1533	c.1409delT	c.(1408-1410)ccfs	p.L470fs	TMEM161B_ENST00000511218.1_Frame_Shift_Del_p.L261fs|TMEM161B_ENST00000506536.1_3'UTR|TMEM161B_ENST00000512429.1_Frame_Shift_Del_p.L459fs|TMEM161B_ENST00000514135.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	470						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TGTAGAAAAGAGGCAAGCAGC	0.378													8	18	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5430010	5430011	+	Frame_Shift_Del	DEL	AG	AG	-	rs34840801		TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:5430010_5430011delAG	ENST00000399434.2	-	3	528_529	c.370_371delCT	c.(370-372)tfs	p.L124fs	TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaGCCAGCATCCT	0.550													3	6	---	---	---	---					
BMPER	168667	broad.mit.edu	37	7	34006128	34006129	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:34006128_34006129insA	ENST00000297161.2	+	5	731_732	c.357_358insA	c.(355-360)ttaatgfs	p.M120fs	BMPER_ENST00000426693.1_Frame_Shift_Ins_p.M120fs	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	120	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAGCTCCTTCAAATGGCAGAG	0.450													20	61	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39503780	39503780	+	Splice_Site	DEL	G	G	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:39503780delG	ENST00000559001.1	+	8	1507		c.e8-1		POU6F2_ENST00000518318.2_Intron|POU6F2_ENST00000403058.1_Splice_Site			P78424	PO6F2_HUMAN	POU class 6 homeobox 2						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCCCCCCCAGACACACCATC	0.532													68	214	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55270296	55270296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:55270296delC	ENST00000275493.2	+	27	3426	c.3249delC	c.(3247-3249)gafs	p.D1084fs	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Frame_Shift_Del_p.D1031fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.D1039fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1084					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACAGCATAGACGACACCTTCC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			8	13	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													3	4	---	---	---	---					
NRCAM	4897	broad.mit.edu	37	7	107832248	107832248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr7:107832248delC	ENST00000379028.3	-	18	2298	c.1828delG	c.(1828-1830)acfs	p.D610fs	NRCAM_ENST00000413765.2_Frame_Shift_Del_p.D591fs|NRCAM_ENST00000379022.4_Frame_Shift_Del_p.D610fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.D604fs|NRCAM_ENST00000425651.2_Frame_Shift_Del_p.D610fs|NRCAM_ENST00000379024.4_Frame_Shift_Del_p.D591fs			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	610	Ig-like 6.				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			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						GTCCCGCTGTCATCGTCACTG	0.512													14	36	---	---	---	---					
FABP9	646480	broad.mit.edu	37	8	82370844	82370845	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr8:82370844_82370845insT	ENST00000379071.2	-	3	395_396	c.340_341insA	c.(340-342)ggtfs	p.G114fs	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	114							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TACCACTACCATTTTTTCATCC	0.317													9	9	---	---	---	---					
ABHD12B	145447	broad.mit.edu	37	14	51345565	51345565	+	Splice_Site	DEL	G	G	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr14:51345565delG	ENST00000337334.2	+	3	350	c.335_splice	c.e3+1	p.W112_splice	ABHD12B_ENST00000554241.1_Intron|ABHD12B_ENST00000395752.1_Splice_Site_p.W5_splice|ABHD12B_ENST00000353130.1_Intron|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	112							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CTAGGGATCTGGTGAGTGCAC	0.517													51	64	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													3	3	---	---	---	---					
IGHV1OR16-2	28314	broad.mit.edu	37	16	32989804	32989804	+	RNA	DEL	T	T	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:32989804delT	ENST00000567619.1	-	0	499																											TGAAGGATCATTTTTTTGGTG	0.478													4	8	---	---	---	---					
ABCC11	85320	broad.mit.edu	37	16	48234288	48234288	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chr16:48234288delG	ENST00000394747.1	-	14	2330	c.1981delC	c.(1981-1983)tgfs	p.L661fs	ABCC11_ENST00000537808.1_Frame_Shift_Del_p.L661fs|ABCC11_ENST00000356608.2_Frame_Shift_Del_p.L661fs|ABCC11_ENST00000353782.5_Frame_Shift_Del_p.L661fs|ABCC11_ENST00000394748.1_Frame_Shift_Del_p.L661fs	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	661	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ACAGCAGACAGGGGGTCGTCC	0.612													17	40	---	---	---	---					
NLGN4X	57502	broad.mit.edu	37	X	5821599	5821600	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:5821599_5821600insT	ENST00000381095.3	-	5	1746_1747	c.1119_1120insA	c.(1117-1122)cagggafs	p.QG373fs	NLGN4X_ENST00000538097.1_Frame_Shift_Ins_p.QG373fs|NLGN4X_ENST00000381092.1_Frame_Shift_Ins_p.QG373fs|NLGN4X_ENST00000381093.2_Frame_Shift_Ins_p.QG393fs|NLGN4X_ENST00000275857.6_Frame_Shift_Ins_p.QG373fs	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	373					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGCCTTCCCCTTGGTTGACGC	0.579													13	40	---	---	---	---					
STARD8	9754	broad.mit.edu	37	X	67938187	67938187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:67938187delG	ENST00000252336.6	+	5	1563	c.1191delG	c.(1189-1191)gtfs	p.V397fs	STARD8_ENST00000374599.3_Frame_Shift_Del_p.V477fs|STARD8_ENST00000374597.3_Frame_Shift_Del_p.V397fs	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	397					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGAACCAGTGGCACAGGAAG	0.697													7	19	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108631849	108631849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7147-01A-11D-2036-08	TCGA-78-7147-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a030f9a1-a066-4c6e-82c3-24c893e38466	55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e	g.chrX:108631849delG	ENST00000218006.2	-	15	3116	c.2825delC	c.(2824-2826)cafs	p.P942fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	942	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATTCCTCTTTGGGAGGCCTGA	0.458													21	114	---	---	---	---					
