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
DENND4C	55667	broad.mit.edu	37	9	19324474	19324474	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:19324474G>A	ENST00000380432.2	+	9	1247	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	DENND4C_ENST00000434457.2_Missense_Mutation_p.G641E|DENND4C_ENST00000602925.1_Missense_Mutation_p.G641E			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	405						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAGATACTGGATTAGCATTT	0.303000													83	251					0	0	0.014410	0	0
HGF	3082	broad.mit.edu	37	7	81355231	81355231	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:81355231T>C	ENST00000222390.5	-	9	1369	c.1143A>G	c.(1141-1143)ccA>ccG	p.P381P	HGF_ENST00000457544.2_Silent_p.P376P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	381	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TATCACAGTTTGGAATTTGGG	0.448000													14	79					0	0	0.002450	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594761	55594761	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:55594761G>A	ENST00000201647.6	+	13	1286	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Silent_p.P392P|EPS8L1_ENST00000245618.5_Silent_p.P283P|EPS8L1_ENST00000588359.1_Silent_p.P64P|EPS8L1_ENST00000540810.1_Silent_p.P346P	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	410						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCTGTCCCCGGAGGAGGGAC	0.627000													35	32					0	0	0.006230	0	0
ULK1	8408	broad.mit.edu	37	12	132403850	132403850	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132403850G>A	ENST00000321867.4	+	24	2956	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	ULK1_ENST00000540647.1_Missense_Mutation_p.E114K	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	869					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAGCGCCAGTGAGGCGGCGGG	0.682000													14	33					0	0	0.003163	0	0
OLA1	29789	broad.mit.edu	37	2	175006600	175006600	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:175006600C>G	ENST00000284719.3	-	5	748	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	OLA1_ENST00000409546.1_Missense_Mutation_p.E188Q|OLA1_ENST00000428402.2_Missense_Mutation_p.E168Q|OLA1_ENST00000344357.5_Missense_Mutation_p.E10Q	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	168			E -> Q (in a breast cancer sample; somatic mutation).		ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	p.E168Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCCACCTTTTCTAGTTTATCT	0.328000													18	48					0	0	0.010504	0	0
CCT5	22948	broad.mit.edu	37	5	10254942	10254942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:10254942G>A	ENST00000280326.4	+	3	743	c.323G>A	c.(322-324)gGa>gAa	p.G108E	CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Missense_Mutation_p.G70E|CCT5_ENST00000503026.1_Missense_Mutation_p.G87E	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	108					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GGAACCACAGGAGTGGTTGGT	0.433000													31	29					0	0	0.010818	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939477	14939477	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:14939477G>A	ENST00000313519.5	+	2	861	c.630G>A	c.(628-630)aaG>aaA	p.K210K	DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Silent_p.K270K	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	270	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CCCTTGTGAAGATTAAAAGAA	0.388000													12	37					0	0	0.001855	0	0
SACM1L	22908	broad.mit.edu	37	3	45773624	45773624	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:45773624G>C	ENST00000389061.5	+	13	1285	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	SACM1L_ENST00000418611.1_Missense_Mutation_p.E258Q|SACM1L_ENST00000541314.1_Missense_Mutation_p.E300Q	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	361	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TCAGGTAGCAGAAATGCAAGA	0.333000													29	63					0	0	0.006320	0	0
RTDR1	27156	broad.mit.edu	37	22	23404081	23404081	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:23404081G>A	ENST00000216036.4	-	6	892	c.696C>T	c.(694-696)gtC>gtT	p.V232V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	232							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGATGGGGATGACGTCAAAAT	0.562000													40	29					0	0	0.007835	0	0
TAB3	257397	broad.mit.edu	37	X	30873150	30873150	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:30873150C>G	ENST00000378933.1	-	3	809	c.632G>C	c.(631-633)aGa>aCa	p.R211T	TAB3_ENST00000288422.2_Missense_Mutation_p.R211T|TAB3_ENST00000378932.2_Missense_Mutation_p.R211T|TAB3_ENST00000378930.3_Missense_Mutation_p.R211T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	211	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAAAGCTCTTGGTACAGT	0.423000													18	13					0	0	0.006122	0	0
MED1	5469	broad.mit.edu	37	17	37564821	37564821	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37564821G>C	ENST00000300651.6	-	17	3876	c.3653C>G	c.(3652-3654)tCc>tGc	p.S1218C	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1218	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCTTTAGAGGATGGAGGAGT	0.478000										HNSCC(31;0.082)			38	30					0	0	0.005524	0	0
TRPV2	51393	broad.mit.edu	37	17	16327060	16327060	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:16327060C>T	ENST00000338560.7	+	5	1302	c.903C>T	c.(901-903)gcC>gcT	p.A301A	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	301	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGAAGCTGGCCGCCAAGGAGG	0.597000													16	17					0	0	0.004990	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069930	29069930	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:29069930C>T	ENST00000373812.3	+	4	1510	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S383L|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S333L	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	383					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCTACTCCTTCAGAACCCCAC	0.498000													22	73					0	0	0.012319	0	0
RNF34	80196	broad.mit.edu	37	12	121867872	121867872	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:121867872G>C	ENST00000392464.2	+	7	1168	c.1099G>C	c.(1099-1101)Gaa>Caa	p.E367Q	KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	21					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AAATGGTCCAGAAAGCAGTGC	0.483000													12	59					0	0	0.001855	0	0
C11orf49	79096	broad.mit.edu	37	11	47183188	47183188	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:47183188G>A	ENST00000378615.3	+	9	1041	c.1013G>A	c.(1012-1014)tGa>tAa	p.*338*	C11orf49_ENST00000395460.2_3'UTR|C11orf49_ENST00000536126.1_Silent_p.*235*|C11orf49_ENST00000543718.1_Silent_p.*248*|C11orf49_ENST00000378618.2_Intron|C11orf49_ENST00000278460.7_Silent_p.*332*			Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	0										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TCGGAGACTTGAGGAGTCCAA	0.622000											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	10					0	0	0.007291	0	0
DENND2A	27147	broad.mit.edu	37	7	140301532	140301532	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:140301532C>T	ENST00000275884.6	-	2	1083	c.666G>A	c.(664-666)ctG>ctA	p.L222L	DENND2A_ENST00000492720.1_Silent_p.L222L|DENND2A_ENST00000537639.1_Silent_p.L222L|DENND2A_ENST00000496613.1_Silent_p.L222L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	222										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCTGCCTTCCAGGTCCGAGG	0.637000													50	130					0	0	0.014410	0	0
ZNF358	140467	broad.mit.edu	37	19	7585298	7585298	+	Silent	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:7585298C>A	ENST00000597229.1	+	2	1340	c.1170C>A	c.(1168-1170)ctC>ctA	p.L390L	ZNF358_ENST00000394341.2_Silent_p.L390L|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	390					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTCCAGCCTCACCAAGCACA	0.716000													32	33					5.6714e-07	5.96756e-07	0.010818	1	0
ELMO2	63916	broad.mit.edu	37	20	45002118	45002118	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:45002118C>G	ENST00000372176.1	-	16	1540	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	ELMO2_ENST00000396391.1_Missense_Mutation_p.E446Q|ELMO2_ENST00000352077.2_Missense_Mutation_p.E444Q|ELMO2_ENST00000445496.2_Missense_Mutation_p.E263Q|ELMO2_ENST00000439931.2_Missense_Mutation_p.E458Q|ELMO2_ENST00000290246.6_Missense_Mutation_p.E446Q|ELMO2_ENST00000454865.2_Missense_Mutation_p.E178Q			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	446	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AAGAGCTCTTCAAAGGCTCGG	0.502000													39	51					0	0	0.004289	0	0
POLR3A	11128	broad.mit.edu	37	10	79741314	79741314	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:79741314C>T	ENST00000372371.3	-	29	3900	c.3763G>A	c.(3763-3765)Gag>Aag	p.E1255K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1255					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGTTTTCTCCACCTACAGA	0.542000													127	162					0	0	0.014410	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774463	140774463	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:140774463G>A	ENST00000398604.2	+	1	2083	c.2083G>A	c.(2083-2085)Gtg>Atg	p.V695M	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCTCGTGGTGGCAGTGGC	0.607000													7	22					0	0	0.006214	0	0
CCZ1B	221960	broad.mit.edu	37	7	6840699	6840699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:6840699C>T	ENST00000316731.8	-	14	1845	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	CCZ1B_ENST00000538180.1_Missense_Mutation_p.E282K	NM_198097.3	NP_932765.1	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	425						lysosomal membrane											TCCTCATCTTCATCCACTCTG	0.438000													20	82					0	0	0.004878	0	0
ACACB	32	broad.mit.edu	37	12	109697942	109697942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:109697942G>A	ENST00000543201.1	+	20	2568	c.2567G>A	c.(2566-2568)gGa>gAa	p.G856E	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000338432.7_Intron|ACACB_ENST00000377848.3_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	0					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATTGGGGAAGGATCAGTGTGA	0.488000													44	245					0	0	0.014410	0	0
MAST4	375449	broad.mit.edu	37	5	66449324	66449324	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:66449324G>A	ENST00000404260.3	+	26	3881	c.3573G>A	c.(3571-3573)ctG>ctA	p.L1191L	MAST4_ENST00000261569.7_Silent_p.L994L|MAST4_ENST00000403666.1_Silent_p.L999L|MAST4_ENST00000405643.1_Silent_p.L1009L|MAST4_ENST00000403625.2_Silent_p.L1188L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1191	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGCAGGACTGAAGGCTGGAG	0.428000													5	8					0	0	0.001168	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			34	137					0	0	0.013726	0	0
TBX2	6909	broad.mit.edu	37	17	59482604	59482604	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:59482604G>C	ENST00000240328.3	+	6	1374	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	365					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCCGGAGCCTGAGCGGTTGAG	0.741000													5	9					0	0	0.000602	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145282020	145282020	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:145282020G>A	ENST00000369340.3	+	6	1144	c.700G>A	c.(700-702)Gat>Aat	p.D234N	RP11-458D21.5_ENST00000468030.1_Intron|NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.D234N			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	234					cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AAAAGAACACGATGAGAATTA	0.378000													10	71					0	0	0.010729	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654126	8654126	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:8654126C>T	ENST00000270328.4	-	17	2424	c.2158G>A	c.(2158-2160)Ggg>Agg	p.G720R	ADAMTS10_ENST00000597188.1_Splice_Site_p.G720R|ADAMTS10_ENST00000595838.1_Splice_Site_p.G207R			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	720	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGACTCTCACCGGCCCCAGGT	0.637000													40	38					0	0	0.011902	0	0
PFKFB3	5209	broad.mit.edu	37	10	6258137	6258137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:6258137G>T	ENST00000379775.4	+	4	679	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	PFKFB3_ENST00000540253.1_Nonsense_Mutation_p.E131*|PFKFB3_ENST00000379789.4_Nonsense_Mutation_p.E97*|PFKFB3_ENST00000536985.1_Nonsense_Mutation_p.E97*|PFKFB3_ENST00000317350.4_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379785.1_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000360521.2_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379782.3_Nonsense_Mutation_p.E117*	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	117	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCTGGCGAAAGAAGGGGGACA	0.587000													41	51					8.20599e-20	8.93787e-20	0.011902	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531740	84531740	+	RNA	SNP	C	C	G	rs140190632	by1000genomes	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:84531740C>G	ENST00000527857.1	+	0	1762					NR_026851.1																						GGTCAGTCCCCACATCTCACT	0.522000													24	15					0	0	0.002780	0	0
NMT2	9397	broad.mit.edu	37	10	15174885	15174885	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:15174885C>G	ENST00000378165.4	-	6	730	c.650G>C	c.(649-651)aGa>aCa	p.R217T	NMT2_ENST00000535341.1_Missense_Mutation_p.R204T|NMT2_ENST00000378150.1_Missense_Mutation_p.R204T|NMT2_ENST00000540259.1_Missense_Mutation_p.R29T|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	217					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TGAAGACACTCTGACCCCACA	0.493000													16	55					0	0	0.003163	0	0
PC	5091	broad.mit.edu	37	11	66618514	66618514	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:66618514G>C	ENST00000393960.1	-	17	2501	c.2220C>G	c.(2218-2220)atC>atG	p.I740M	PC_ENST00000393958.2_Missense_Mutation_p.I740M|PC_ENST00000393955.2_Missense_Mutation_p.I740M	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	740	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAGGCACCTTGATGCACAGGA	0.647000													37	12					0	0	0.003755	0	0
TIMD4	91937	broad.mit.edu	37	5	156381553	156381553	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:156381553C>T	ENST00000274532.2	-	2	329	c.273G>A	c.(271-273)ccG>ccA	p.P91P	TIMD4_ENST00000407087.3_Silent_p.P91P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	91	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCACCTCTCGGGATAGTCC	0.517000													20	39					0	0	0.008871	0	0
MROH2B	133558	broad.mit.edu	37	5	41057463	41057463	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:41057463C>G	ENST00000399564.4	-	8	1207		c.e8-1		MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTTTTAGGCTCTAAAGTGGAA	0.433000													5	1					0	0	0.000602	0	0
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:1940449C>T	ENST00000543818.1	+	4	1258	c.416C>T	c.(415-417)tCg>tTg	p.S139L	LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652000													20	58					0	0	0.010504	0	0
CDH6	1004	broad.mit.edu	37	5	31317518	31317518	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:31317518C>G	ENST00000265071.2	+	10	1814	c.1549C>G	c.(1549-1551)Cct>Gct	p.P517A	CDH6_ENST00000514738.1_Missense_Mutation_p.P462A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	517	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAAGGATGACCCTTATAGTGG	0.398000													4	110					0	0	0.009096	0	0
FLRT3	23767	broad.mit.edu	37	20	14307164	14307164	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:14307164C>T	ENST00000378053.3	-	2	1245	c.989G>A	c.(988-990)cGt>cAt	p.R330H	FLRT3_ENST00000341420.4_Missense_Mutation_p.R330H|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	330	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CATGAGCCCACGCACGTTGAC	0.473000													40	124					0	0	0.007835	0	0
NBPF1	55672	broad.mit.edu	37	1	16891403	16891403	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16891403C>G	ENST00000430580.2	-	28	3962	c.3075G>C	c.(3073-3075)aaG>aaC	p.K1025N		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1025	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ccttccccttcttTTCAATTT	0.443000													5	655					0	0	0.002450	0	0
SYNC	81493	broad.mit.edu	37	1	33149906	33149906	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33149906C>G	ENST00000373484.3	-	3	1410	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	SYNC_ENST00000409190.3_Missense_Mutation_p.E437D|RBBP4_ENST00000373493.5_3'UTR	NM_001161708.1	NP_001155180	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	437	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCTGTTCCATCTCTTTGTTCT	0.463000													59	152					0	0	0.014410	0	0
HMCN1	83872	broad.mit.edu	37	1	186007984	186007984	+	Missense_Mutation	SNP	C	C	T	rs149920975		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:186007984C>T	ENST00000271588.4	+	38	6104	c.5875C>T	c.(5875-5877)Cgt>Tgt	p.R1959C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1959C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1959	Ig-like C2-type 17.			R -> C (in Ref. 1).	response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAGATAATCGTCTACTCTC	0.348000													13	96					0	0	0.004007	0	0
FLG	2312	broad.mit.edu	37	1	152281835	152281835	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:152281835G>C	ENST00000368799.1	-	3	5562	c.5527C>G	c.(5527-5529)Cac>Gac	p.H1843D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1843	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)			GTGTGGCTGTGATGAGACCCT	0.532000									Ichthyosis				200	227					0	0	0.014410	0	0
ZNF407	55628	broad.mit.edu	37	18	72347227	72347227	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:72347227G>C	ENST00000299687.5	+	1	4252	c.4252G>C	c.(4252-4254)Gat>Cat	p.D1418H	ZNF407_ENST00000577538.1_Missense_Mutation_p.D1418H|ZNF407_ENST00000309902.6_Missense_Mutation_p.D1418H|ZNF407_ENST00000582337.1_Missense_Mutation_p.D1418H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCGCTGTGATGATTGTGGCTT	0.438000													9	31					0	0	0.004482	0	0
DOCK1	1793	broad.mit.edu	37	10	129224163	129224163	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:129224163G>A	ENST00000280333.6	+	47	4848	c.4739G>A	c.(4738-4740)aGa>aAa	p.R1580K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1580	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAAGGGATCAGAATCCATGGA	0.493000													39	191					0	0	0.005524	0	0
BNIP3	664	broad.mit.edu	37	10	133786615	133786615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:133786615G>A	ENST00000540159.1	-	3	321	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	BNIP3_ENST00000368636.4_Missense_Mutation_p.R69C			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	69					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTCTGCGAGCGAGGTGGGCTT	0.468000													39	118					0	0	0.006999	0	0
OR52B4	143496	broad.mit.edu	37	11	4388815	4388815	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:4388815G>C	ENST00000408920.2	-	1	801	c.711C>G	c.(709-711)caC>caG	p.H237Q		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGAGCTTTGTGGCAAGCAT	0.443000													8	81					0	0	0.003080	0	0
MALSU1	115416	broad.mit.edu	37	7	23347497	23347497	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:23347497T>C	ENST00000466681.1	+	3	599	c.446T>C	c.(445-447)cTg>cCg	p.L149P		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	149						mitochondrion											TACAAACACCTGAAATGTAAA	0.418000													3	79					0	0	0.004672	0	0
TG	7038	broad.mit.edu	37	8	134145801	134145801	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:134145801G>C	ENST00000220616.4	+	47	8125	c.8085G>C	c.(8083-8085)gaG>gaC	p.E2695D	TG_ENST00000377869.1_Missense_Mutation_p.E2638D|TG_ENST00000519543.1_Missense_Mutation_p.E828D|TG_ENST00000542445.1_Missense_Mutation_p.E1065D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2695					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGTGGAGAGAACTACAAGG	0.522000													37	54					0	0	0.003755	0	0
CNOT6	57472	broad.mit.edu	37	5	180000991	180000991	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:180000991A>C	ENST00000393356.1	+	14	1889	c.1465A>C	c.(1465-1467)Ata>Cta	p.I489L	CNOT6_ENST00000261951.4_Missense_Mutation_p.I489L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	489					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTCAGGGTATAATAGACTA	0.418000													15	33					0	0	0.003163	0	0
IMMT	10989	broad.mit.edu	37	2	86389141	86389141	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:86389141C>T	ENST00000410111.3	-	8	1241	c.854G>A	c.(853-855)aGa>aAa	p.R285K	IMMT_ENST00000409051.2_Missense_Mutation_p.R238K|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000449247.2_Missense_Mutation_p.R274K|IMMT_ENST00000254636.5_Missense_Mutation_p.R186K|IMMT_ENST00000442664.2_Missense_Mutation_p.R284K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	285						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACTGCCTTTCTGCGTTCCTT	0.428000													12	9					0	0	0.003163	0	0
MST1	4485	broad.mit.edu	37	3	49722087	49722087	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:49722087G>T	ENST00000449682.2	-	16	2133	c.1772C>A	c.(1771-1773)tCt>tAt	p.S591Y	AC099668.5_ENST00000563780.1_RNA	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	577	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGTCACAGATCTTTAGCA	0.602000													15	53					2.32078e-09	2.46775e-09	0.003163	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296403	28296403	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr21:28296403G>C	ENST00000284987.5	-	8	2883	c.2762C>G	c.(2761-2763)gCg>gGg	p.A921G	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	921	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTGCTTAAACGCAGAAGGCCT	0.483000													15	51					0	0	0.004007	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104763	88104763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:88104763C>T	ENST00000398392.2	-	1	1696	c.364G>A	c.(364-366)Gat>Aat	p.D122N	CGGBP1_ENST00000482016.1_Missense_Mutation_p.D122N|CGGBP1_ENST00000462901.1_Missense_Mutation_p.D122N|CGGBP1_ENST00000309534.6_Missense_Mutation_p.D122N			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GCTGGGTGATCAGCCTTCTCA	0.488000													22	54					0	0	0.010504	0	0
KIAA1524	57650	broad.mit.edu	37	3	108271090	108271090	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:108271090C>G	ENST00000295746.8	-	20	2614	c.2538G>C	c.(2536-2538)ttG>ttC	p.L846F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L687F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	846						cytoplasm|integral to membrane	protein binding	p.L846F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTAATGCTCAACTCTTTTC	0.313000													12	26					0	0	0.013537	0	0
TMX4	56255	broad.mit.edu	37	20	7963265	7963265	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:7963265T>A	ENST00000246024.2	-	8	898	c.683A>T	c.(682-684)cAg>cTg	p.Q228L		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	228	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TCTCCGATTCTGCTCTATGGA	0.398000													27	57					0	0	0.006320	0	0
RP9	6100	broad.mit.edu	37	7	33136118	33136118	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:33136118C>G	ENST00000297157.3	-	5	471	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	152	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ACGTCCTTTTCATGTCGTTTA	0.383000													11	41					0	0	0.013537	0	0
PTN	5764	broad.mit.edu	37	7	136935980	136935980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:136935980G>A	ENST00000348225.2	-	4	875	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	PTN_ENST00000393083.2_Nonsense_Mutation_p.Q150*	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	150					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GACTTACCTTGAGGTTTGGGC	0.458000													45	125					0	0	0.014410	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363857	4363857	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:4363857C>T	ENST00000269886.3	-	6	662	c.484G>A	c.(484-486)Gag>Aag	p.E162K	SH3GL1_ENST00000598564.1_Missense_Mutation_p.E98K|SH3GL1_ENST00000417295.2_Missense_Mutation_p.E114K|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	162	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGGCGGCCCTCCAGTTTCTTC	0.627000			T	MLL	AL								32	26					0	0	0.003271	0	0
TNNI1	7135	broad.mit.edu	37	1	201380568	201380568	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:201380568G>A	ENST00000361379.4	-	7	465	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TNNI1_ENST00000336092.4_Missense_Mutation_p.R125W|TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000367312.1_Missense_Mutation_p.R125W	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	125					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						AGCAGGGCCCGGAGCATGGCG	0.597000													17	20					0	0	0.004007	0	0
QARS	5859	broad.mit.edu	37	3	49142171	49142171	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:49142171G>A	ENST00000420147.2	-	1	382	c.50C>T	c.(49-51)tCt>tTt	p.S17F	QARS_ENST00000306125.6_5'UTR|QARS_ENST00000414533.1_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	0					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGCCATTGCAGAGACACCGGA	0.602000													11	31					0	0	0.013537	0	0
HCN3	57657	broad.mit.edu	37	1	155257083	155257083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:155257083C>T	ENST00000368358.3	+	7	1605	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	533						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCATGATGCGCCGGGCCTT	0.617000													18	63					0	0	0.012319	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056393	26056393	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26056393C>T	ENST00000343677.2	-	1	306	c.264G>A	c.(262-264)gtG>gtA	p.V88V		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	88	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGCCCTTGCTCACCAGGCTCT	0.532000													34	129					0	0	0.013726	0	0
UBN1	29855	broad.mit.edu	37	16	4908646	4908646	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:4908646C>T	ENST00000396658.4	+	3	1117	c.414C>T	c.(412-414)ttC>ttT	p.F138F	UBN1_ENST00000590769.1_Silent_p.F138F|UBN1_ENST00000545171.1_Silent_p.F138F|UBN1_ENST00000262376.6_Silent_p.F138F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	138	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCGACTCCTTCATCGATAACT	0.463000													10	16					0	0	0.006214	0	0
GCHFR	2644	broad.mit.edu	37	15	41056396	41056396	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:41056396C>T	ENST00000260447.4	+	1	179	c.18C>T	c.(16-18)atC>atT	p.I6I	GCHFR_ENST00000561160.1_Silent_p.I6I|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Silent_p.I6I	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	6					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACCTGCTCATCAGCACCCAGA	0.701000													5	1					0	0	0.000602	0	0
ERBB3	2065	broad.mit.edu	37	12	56486584	56486584	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:56486584G>A	ENST00000267101.3	+	10	1603	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	ERBB3_ENST00000415288.2_Missense_Mutation_p.R329Q|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	388					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATGTCTTCCGGACAGTACGG	0.458000													12	123					0	0	0.002450	0	0
RP1L1	94137	broad.mit.edu	37	8	10466760	10466760	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:10466760G>A	ENST00000382483.3	-	4	5071	c.4848C>T	c.(4846-4848)ctC>ctT	p.L1616L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1616					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGAAGGCCGAGAGGTTTCGCA	0.706000													13	12					0	0	0.001855	0	0
ZNF784	147808	broad.mit.edu	37	19	56133794	56133794	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:56133794C>G	ENST00000325351.4	-	2	334	c.295G>C	c.(295-297)Gac>Cac	p.D99H	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCTCGGGTCCCCACCCTGC	0.726000													4	19					0	0	0.009096	0	0
NRXN1	9378	broad.mit.edu	37	2	50318575	50318575	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:50318575C>G	ENST00000404971.1	-	20	5063	c.3724G>C	c.(3724-3726)Gaa>Caa	p.E1242Q	NRXN1_ENST00000406859.3_Missense_Mutation_p.E1202Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1194Q|NRXN1_ENST00000342183.5_Missense_Mutation_p.E167Q|NRXN1_ENST00000401710.1_Missense_Mutation_p.E220Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1202Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1194Q|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1202Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1202	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCATTGGATTCTTCAATGGCG	0.438000													27	126					0	0	0.004656	0	0
FAM110A	83541	broad.mit.edu	37	20	825768	825768	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:825768C>T	ENST00000304189.2	+	3	702	c.321C>T	c.(319-321)ctC>ctT	p.L107L	FAM110A_ENST00000381941.3_Silent_p.L107L|FAM110A_ENST00000381939.1_Silent_p.L107L|FAM110A_ENST00000246100.3_Silent_p.L107L|FAM110A_ENST00000541082.1_Silent_p.L107L			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	107						microtubule organizing center|spindle pole	protein binding			breast(1)|lung(2)	3						TGGACATCCTCAGCAGCCTCA	0.721000													9	9					0	0	0.010729	0	0
CEP70	80321	broad.mit.edu	37	3	138219388	138219388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:138219388G>A	ENST00000264982.3	-	15	1656	c.1390C>T	c.(1390-1392)Caa>Taa	p.Q464*	CEP70_ENST00000484888.1_Nonsense_Mutation_p.Q464*|CEP70_ENST00000542237.1_Nonsense_Mutation_p.Q444*|CEP70_ENST00000489254.1_Nonsense_Mutation_p.Q312*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.Q464*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	464					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TGCAAAGTTTGAAAGTGTGGC	0.323000													116	255					0	0	0.014410	0	0
DLX3	1747	broad.mit.edu	37	17	48068882	48068882	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:48068882C>T	ENST00000434704.2	-	3	1088	c.863G>A	c.(862-864)tGa>tAa	p.*288*	DLX3_ENST00000512495.2_Silent_p.*168*	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GATGGGTGCTCAGTACACAGC	0.642000													5	26					0	0	0.000602	0	0
LAIR1	3903	broad.mit.edu	37	19	54872615	54872615	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:54872615A>G	ENST00000391743.3	-	2	498	c.218T>C	c.(217-219)gTa>gCa	p.V73A	LAIR1_ENST00000463489.1_Splice_Site|LAIR1_ENST00000434277.2_Missense_Mutation_p.V90A|LAIR1_ENST00000313038.6_Missense_Mutation_p.V84A|LAIR1_ENST00000348231.4_Missense_Mutation_p.V91A|LAIR1_ENST00000391742.2_Missense_Mutation_p.V91A|LAIR1_ENST00000474878.1_Missense_Mutation_p.V90A			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	91	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCCTTCACTTACTGAGTCAAT	0.498000													9	276					0	0	0.008291	0	0
PLD6	201164	broad.mit.edu	37	17	17109483	17109483	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:17109483C>T	ENST00000321560.3	-	1	146	c.118G>A	c.(118-120)Gag>Aag	p.E40K	RP11-45M22.4_ENST00000427497.3_Intron	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	40					DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity			endometrium(1)|lung(1)	2						AACAGCGCCTcgcgccgcggc	0.771000													5	3					0	0	0.000602	0	0
MAML3	55534	broad.mit.edu	37	4	140651796	140651796	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:140651796C>T	ENST00000509479.2	-	3	2961	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	698	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCCTGTGGTTCGGGGAAGTCC	0.632000													4	12					0	0	0.000602	0	0
TRIM51	84767	broad.mit.edu	37	11	55658689	55658689	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:55658689G>C	ENST00000449290.2	+	7	1032	c.940G>C	c.(940-942)Gac>Cac	p.D314H	TRIM51_ENST00000244891.3_Missense_Mutation_p.D171H	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	314	B30.2/SPRY.					intracellular	zinc ion binding	p.D314Y(1)|p.D155Y(1)									TGTTGGATGTGACCCTCAAGA	0.388000													80	46					0	0	0.014410	0	0
ASPM	259266	broad.mit.edu	37	1	197070512	197070512	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:197070512T>G	ENST00000367409.4	-	18	8125	c.7869A>C	c.(7867-7869)gaA>gaC	p.E2623D	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2623					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						CCTGGTGCTGTTCCTGAATCT	0.343000													13	12					0	0	0.001855	0	0
INSM2	84684	broad.mit.edu	37	14	36005008	36005008	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:36005008C>G	ENST00000307169.3	+	1	1761	c.1550C>G	c.(1549-1551)tCt>tGt	p.S517C		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGCGGGCCATCTGACGGGAGT	0.627000													12	22					0	0	0.010729	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906303	906303	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:906303G>C	ENST00000379409.2	+	5	679	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E177Q|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.E177Q			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	217	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGCCGGGCCGAGCTGGACCG	0.726000													17	11					0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	140995786	140995786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:140995786C>T	ENST00000389484.3	-	89	14466	c.13495G>A	c.(13495-13497)Gag>Aag	p.E4499K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4499					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCTACCTCATACATGTTA	0.338000										TSP Lung(27;0.18)			11	54					0	0	0.008291	0	0
RNF111	54778	broad.mit.edu	37	15	59350705	59350705	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350705C>T	ENST00000348370.4	+	5	1755	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	RNF111_ENST00000559209.1_Missense_Mutation_p.S441L|RNF111_ENST00000557998.1_Missense_Mutation_p.S441L|RNF111_ENST00000561186.1_Missense_Mutation_p.S441L|RNF111_ENST00000434298.1_Missense_Mutation_p.S441L	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	441	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCAGAGACTTCAGCTACTCTT	0.448000													129	112					0	0	0.014410	0	0
ATP1B2	482	broad.mit.edu	37	17	7554879	7554879	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:7554879G>C	ENST00000250111.4	+	1	450	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	15					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GCAGGTGGTTGAGGAGTGGAA	0.697000													2	6					0	0	0.004672	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268770	21268770	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:21268770G>A	ENST00000602326.1	-	12	1310	c.727C>T	c.(727-729)Cta>Tta	p.L243L	EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Silent_p.L237L|EIF4G3_ENST00000356916.3_Silent_p.L248L|EIF4G3_ENST00000374937.3_Silent_p.L243L|EIF4G3_ENST00000264211.8_Silent_p.L237L|EIF4G3_ENST00000374927.4_Silent_p.L237L|EIF4G3_ENST00000536266.1_5'UTR	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	237					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.L237L(1)|p.L243L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGAGGACTAGCCTAAGGACT	0.438000													27	108					0	0	0.006320	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228412	142228412	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:142228412C>T	ENST00000519067.1	-	4	1477	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	SLC45A4_ENST00000024061.3_Missense_Mutation_p.A392T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A385T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A443T			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	443					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACGGCGTTGGCGCGCCGGTAG	0.692000													5	68					0	0	0.000602	0	0
DDX42	11325	broad.mit.edu	37	17	61895626	61895626	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:61895626G>C	ENST00000578681.1	+	19	3286	c.2685G>C	c.(2683-2685)aaG>aaC	p.K895N	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.K895N|DDX42_ENST00000359353.5_Missense_Mutation_p.K776N|DDX42_ENST00000457800.2_Missense_Mutation_p.K895N|DDX42_ENST00000389924.2_Missense_Mutation_p.K895N	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	895					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTGAGAGCAAGATGGAGCCCA	0.547000													43	63					0	0	0.006999	0	0
CCDC38	120935	broad.mit.edu	37	12	96312708	96312708	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:96312708G>C	ENST00000344280.3	-	3	641	c.84C>G	c.(82-84)atC>atG	p.I28M		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	28										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTGAAAAAGATCTTATAAG	0.338000													12	86					0	0	0.001855	0	0
APOL5	80831	broad.mit.edu	37	22	36122831	36122831	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:36122831G>A	ENST00000249044.2	+	3	716	c.716G>A	c.(715-717)gGc>gAc	p.G239D		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	239					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCTATCCAGGGCATCAAGGAT	0.468000													4	178					0	0	0.009096	0	0
HACE1	57531	broad.mit.edu	37	6	105198288	105198288	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:105198288G>C	ENST00000262903.4	-	20	2547	c.2271C>G	c.(2269-2271)atC>atG	p.I757M	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.I542M	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	757	HECT.				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)		AAAAAGCATTGATCTGAGGCT	0.383000													4	18					0	0	0.000602	0	0
PLXND1	23129	broad.mit.edu	37	3	129289674	129289674	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:129289674C>T	ENST00000393239.1	-	19	3883	c.3705G>A	c.(3703-3705)tcG>tcA	p.S1235S	PLXND1_ENST00000324093.4_Silent_p.S1235S			Q9Y4D7	PLXD1_HUMAN	plexin D1	1235					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTCGTTGACCGAGCAGTGGA	0.637000													115	159					0	0	0.014410	0	0
VDAC1	7416	broad.mit.edu	37	5	133326753	133326753	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:133326753C>T	ENST00000265333.3	-	4	454	c.210G>A	c.(208-210)acG>acA	p.T70T	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Silent_p.T70T|VDAC1_ENST00000395047.2_Silent_p.T70T	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	70					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TCTCTGTAAACGTCAGGCCGT	0.458000													12	80					0	0	0.010729	0	0
C12orf43	64897	broad.mit.edu	37	12	121454205	121454205	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:121454205G>C	ENST00000288757.3	-	1	95	c.73C>G	c.(73-75)Cgg>Ggg	p.R25G	C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.R25G|C12orf43_ENST00000539736.1_Missense_Mutation_p.R25G|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000445832.3_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	25										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGCGGCACCGCTCCAGCTCC	0.622000													5	74					0	0	0.001168	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													6	46					0	0	0.001168	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654344	8654344	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:8654344C>T	ENST00000270328.4	-	16	2292	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E676K|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.E163K			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	676	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACCTTGCATTCGCCACTGACG	0.657000													95	84					0	0	0.014410	0	0
NUP43	348995	broad.mit.edu	37	6	150048189	150048189	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:150048189C>T	ENST00000340413.2	-	8	1135	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000460354.2_Silent_p.V353V|NUP43_ENST00000367404.4_Silent_p.V257V	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	353					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CCAAAGTGTTCACAGACAGAG	0.398000													23	21					0	0	0.003330	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160244690	160244690	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:160244690G>A	ENST00000264431.4	+	5	1006	c.587G>A	c.(586-588)gGa>gAa	p.G196E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	196					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGTGCATGGGAAATAGTTTT	0.383000													12	30					0	0	0.013537	0	0
OR6K6	128371	broad.mit.edu	37	1	158725183	158725183	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:158725183C>T	ENST00000368144.2	+	1	674	c.578C>T	c.(577-579)aCc>aTc	p.T193I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T193S(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGATTTCCACCTTGCCTTTC	0.478000													41	45					0	0	0.006230	0	0
TRIO	7204	broad.mit.edu	37	5	14497101	14497101	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:14497101G>A	ENST00000344204.4	+	50	8018	c.7994G>A	c.(7993-7995)gGa>gAa	p.G2665E	TRIO_ENST00000537187.1_Missense_Mutation_p.G2489E|TRIO_ENST00000344135.5_Missense_Mutation_p.G164E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2665					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)					TCACGGGAAGGACTCAGCAAC	0.493000													11	45					0	0	0.008291	0	0
LSG1	55341	broad.mit.edu	37	3	194392818	194392818	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:194392818C>T	ENST00000265245.5	-	1	388	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	25					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACGATGGCTTCGGCTCCGCTG	0.582000													27	47					0	0	0.007291	0	0
LPIN2	9663	broad.mit.edu	37	18	2925292	2925292	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:2925292G>A	ENST00000261596.4	-	14	2106	c.1868C>T	c.(1867-1869)cCc>cTc	p.P623L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	623					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGGCTCTGTGGGGATGGGGTC	0.547000													35	111					0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9060229	9060229	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:9060229C>T	ENST00000397910.4	-	3	27420	c.27217G>A	c.(27217-27219)Gaa>Aaa	p.E9073K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9075	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						TCTGTAGATTCTGTCTTGATG	0.488000													98	74					0	0	0.014410	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													6	19					0	0	0.003080	0	0
CSMD2	114784	broad.mit.edu	37	1	33992844	33992844	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33992844C>T	ENST00000373381.4	-	65	10362	c.10186G>A	c.(10186-10188)Ggg>Agg	p.G3396R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3252						integral to membrane|plasma membrane	protein binding	p.G3252W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGTCTCCCACTGGGCCGG	0.502000													7	61					0	0	0.004482	0	0
ZNF254	9534	broad.mit.edu	37	19	24309978	24309978	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:24309978T>C	ENST00000357002.4	+	4	1291	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	ZNF254_ENST00000342944.6_Silent_p.T307T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	392					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AACTCTCAACTCTTACTACAC	0.353000													5	49					0	0	0.001855	0	0
FAT4	79633	broad.mit.edu	37	4	126241535	126241535	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:126241535T>A	ENST00000394329.3	+	1	3982	c.3969T>A	c.(3967-3969)gaT>gaA	p.D1323E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1323	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTTTGTTGATGTTTTGGAAA	0.368000													19	41					0	0	0.007413	0	0
MMP21	118856	broad.mit.edu	37	10	127464241	127464241	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:127464241G>C	ENST00000368808.3	-	1	149	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	50					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGCAGCGTGGAGGTCGGCAA	0.682000													28	28					0	0	0.008361	0	0
CELA2B	51032	broad.mit.edu	37	1	15809801	15809801	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:15809801C>T	ENST00000375910.3	+	5	424	c.399C>T	c.(397-399)ctC>ctT	p.L133L	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CCGTCTCCCTCACCGACAAGA	0.602000													32	42					0	0	0.004878	0	0
NONO	4841	broad.mit.edu	37	X	70514379	70514379	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:70514379G>A	ENST00000535149.1	+	3	1026		c.e3+1		NONO_ENST00000373856.3_Splice_Site|NONO_ENST00000276079.8_Splice_Site|NONO_ENST00000490044.1_Splice_Site|NONO_ENST00000373841.1_Splice_Site	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGCTAACCACGTAAGTGAGGG	0.473000			T	TFE3	papillary renal cancer								9	1					0	0	0.004482	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011597	72011597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:72011597G>C	ENST00000370435.4	+	7	1335	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	401						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAGTAATGCTGAGAACATGAA	0.458000													28	42					0	0	0.007291	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978676	148978676	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:148978676G>T	ENST00000434415.1	+	6	1046	c.883G>T	c.(883-885)Ggc>Tgc	p.G295C	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	295					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTGTCCCGAGGCCAGACCGA	0.652000													25	44					6.32553e-13	6.83429e-13	0.004656	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36279303	36279303	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:36279303C>T	ENST00000007510.4	+	21	3980	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1118F|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1115F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1279					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCTCCACTCTGAGGGCCAG	0.632000													6	7					0	0	0.001168	0	0
RNF111	54778	broad.mit.edu	37	15	59350651	59350651	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350651C>T	ENST00000348370.4	+	5	1701	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	RNF111_ENST00000559209.1_Missense_Mutation_p.S423F|RNF111_ENST00000557998.1_Missense_Mutation_p.S423F|RNF111_ENST00000561186.1_Missense_Mutation_p.S423F|RNF111_ENST00000434298.1_Missense_Mutation_p.S423F	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	423	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GAGCAGGCCTCTGATACTGCT	0.458000													154	113					0	0	0.014410	0	0
OR10S1	219873	broad.mit.edu	37	11	123848240	123848240	+	Silent	SNP	A	A	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:123848240A>C	ENST00000531945.1	-	1	248	c.159T>G	c.(157-159)gcT>gcG	p.A53A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGATTCCCAGCCACAGTGA	0.532000													14	17					0	0	0.002450	0	0
SNTA1	6640	broad.mit.edu	37	20	32000163	32000163	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:32000163G>C	ENST00000217381.2	-	5	1250	c.979C>G	c.(979-981)Ctc>Gtc	p.L327V		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	327	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GTCTCGGGGAGAGACAAGTAG	0.632000													13	35					0	0	0.004007	0	0
TMEM44	93109	broad.mit.edu	37	3	194336335	194336335	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:194336335A>G	ENST00000392432.2	-	8	1221	c.1016T>C	c.(1015-1017)cTt>cCt	p.L339P	TMEM44_ENST00000473092.1_Missense_Mutation_p.L292P|TMEM44_ENST00000381975.3_Missense_Mutation_p.L292P|TMEM44_ENST00000347147.4_Missense_Mutation_p.L292P|TMEM44_ENST00000273580.7_Missense_Mutation_p.L292P	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	339						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACAGGTCAAAAGGGCTTGGGT	0.498000													4	306					0	0	0.001168	0	0
CIR1	9541	broad.mit.edu	37	2	175213677	175213677	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:175213677C>T	ENST00000342016.3	-	10	993	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	301	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TTGTTATGCCCTGAACACttg	0.378000													33	66					0	0	0.010818	0	0
MUC3A	4584	broad.mit.edu	37	7	100552516	100552516	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:100552516G>A	ENST00000319509.7	+	1	1267	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCCCACCAGTGAGACCTGGCT	0.542000													50	135					0	0	0.014410	0	0
USP35	57558	broad.mit.edu	37	11	77921098	77921098	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:77921098G>A	ENST00000529308.1	+	10	2458	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.E464K|USP35_ENST00000530267.1_Missense_Mutation_p.E301K|USP35_ENST00000441408.2_Missense_Mutation_p.E319K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	733					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaaaaggaagaagaCAGCCT	0.607000													34	20					0	0	0.013726	0	0
USP15	9958	broad.mit.edu	37	12	62790135	62790135	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:62790135G>C	ENST00000280377.5	+	20	2689	c.2631G>C	c.(2629-2631)ctG>ctC	p.L877L	USP15_ENST00000353364.3_Silent_p.L848L|USP15_ENST00000393654.3_Silent_p.L852L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	877					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCTATAATCTGATTGCTGTTT	0.393000													12	54					0	0	0.013537	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609935	32609935	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:32609935A>G	ENST00000343139.5	+	3	620	c.518A>G	c.(517-519)aAg>aGg	p.K173R	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.K173R|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.K173R	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	172	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCCTTCTTCAAGATCAGTTAC	0.512000													18	67					0	0	0.012319	0	0
GCC2	9648	broad.mit.edu	37	2	109086467	109086467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:109086467C>T	ENST00000309863.6	+	6	1396	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	228					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGCTAATTCTCAGCATTACCA	0.358000													48	62					0	0	0.011902	0	0
KDM2B	84678	broad.mit.edu	37	12	121867944	121867944	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:121867944G>A	ENST00000377069.4	-	23	4179	c.3773C>T	c.(3772-3774)tCa>tTa	p.S1258L	KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR|RNF34_ENST00000392464.2_Missense_Mutation_p.E391K	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	0					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACGGGTGGTTGAACAGCTTCT	0.453000													24	98					0	0	0.004656	0	0
PCM1	5108	broad.mit.edu	37	8	17813004	17813004	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:17813004G>C	ENST00000325083.8	+	10	1753	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	PCM1_ENST00000518537.1_Missense_Mutation_p.Q477H|PCM1_ENST00000519253.1_Missense_Mutation_p.Q438H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q438H	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	438					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTGTCGATCAGAGAAGTACTT	0.433000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								6	6					0	0	0.001168	0	0
MED1	5469	broad.mit.edu	37	17	37564338	37564338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37564338G>A	ENST00000300651.6	-	17	4359	c.4136C>T	c.(4135-4137)tCa>tTa	p.S1379L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1379	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTGACTCTGAGGTCTTCTT	0.443000										HNSCC(31;0.082)			52	76					0	0	0.014410	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959757	16959757	+	RNA	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16959757C>G	ENST00000412962.1	-	0	74																											AGGGCTGGCTCGACCCGGCTC	0.667000													3	13					0	0	0.009096	0	0
KATNA1	11104	broad.mit.edu	37	6	149959681	149959681	+	Translation_Start_Site	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:149959681C>G	ENST00000367411.2	-	2	261	c.3G>C	c.(1-3)atG>atC	p.M1I	KATNA1_ENST00000335647.5_Start_Codon_SNP_p.M1I|KATNA1_ENST00000335643.8_Start_Codon_SNP_p.M1I	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	1	Interaction with KATNB1.|Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TAAGAAGACTCATGTTCAACT	0.333000													27	124					0	0	0.005443	0	0
MYO5B	4645	broad.mit.edu	37	18	47500848	47500848	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:47500848G>C	ENST00000285039.7	-	10	1493	c.1194C>G	c.(1192-1194)atC>atG	p.I398M		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	398	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGCGCGCATTGATCACCTGCT	0.582000													27	29					0	0	0.004656	0	0
NOC2L	26155	broad.mit.edu	37	1	892328	892328	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:892328C>G	ENST00000327044.6	-	4	481	c.432G>C	c.(430-432)aaG>aaC	p.K144N	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	144						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAACAGAATTCTTCTTCCCCT	0.592000													72	124					0	0	0.014410	0	0
ECHDC3	79746	broad.mit.edu	37	10	11797603	11797603	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:11797603G>C	ENST00000379215.4	+	4	798	c.587G>C	c.(586-588)aGa>aCa	p.R196T	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	196						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GCAGTGCCTAGAAAGGTAATT	0.557000													11	13					0	0	0.013537	0	0
BOC	91653	broad.mit.edu	37	3	112998700	112998700	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:112998700C>G	ENST00000495514.1	+	13	2754	c.2050C>G	c.(2050-2052)Ctg>Gtg	p.L684V	BOC_ENST00000355385.3_Missense_Mutation_p.L684V|BOC_ENST00000273395.4_Missense_Mutation_p.L685V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	684	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGTCCGGGCTCTGAACATGCT	0.612000													55	118					0	0	0.014410	0	0
BAI2	576	broad.mit.edu	37	1	32205546	32205546	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:32205546C>T	ENST00000373658.3	-	14	2489	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	BAI2_ENST00000440175.2_Silent_p.L358L|BAI2_ENST00000398547.1_Silent_p.L649L|BAI2_ENST00000398538.1_Silent_p.L704L|BAI2_ENST00000527361.1_Silent_p.L716L|BAI2_ENST00000373655.2_Silent_p.L716L|BAI2_ENST00000398542.1_Silent_p.L649L|BAI2_ENST00000398556.3_Silent_p.L664L|BAI2_ENST00000257070.4_Silent_p.L716L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	716					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGTGACAATCAGAGAGCTCT	0.552000													11	48					0	0	0.010729	0	0
OR5L1	219437	broad.mit.edu	37	11	55579623	55579623	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:55579623G>A	ENST00000333973.2	+	1	770	c.681G>A	c.(679-681)aaG>aaA	p.K227K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCATCCTGAAGATGGGCTCTG	0.498000													24	73					0	0	0.002780	0	0
STS	412	broad.mit.edu	37	X	7268123	7268123	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:7268123G>A	ENST00000217961.4	+	10	1793	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	525					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCGGTTTTATGAAATCCTCAA	0.498000									Ichthyosis				15	10					0	0	0.003163	0	0
AGBL1	123624	broad.mit.edu	37	15	86790936	86790936	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:86790936C>T	ENST00000441037.2	+	6	518	c.423C>T	c.(421-423)taC>taT	p.Y141Y	AGBL1_ENST00000421325.2_Silent_p.Y141Y	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	141					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACCGAGGCTACGTCACCAGCC	0.597000													10	8					0	0	0.006214	0	0
ZP4	57829	broad.mit.edu	37	1	238053789	238053789	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:238053789T>C	ENST00000366570.4	-	1	305	c.147A>G	c.(145-147)gcA>gcG	p.A49A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	49					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)			GAGGAGACGTTGCCTCCTGGT	0.498000													4	34					0	0	0.000602	0	0
CROT	54677	broad.mit.edu	37	7	86988563	86988563	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:86988563G>A	ENST00000331536.3	+	4	342	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	CROT_ENST00000412227.2_Missense_Mutation_p.E53K|CROT_ENST00000442291.1_Missense_Mutation_p.E53K|CROT_ENST00000419147.2_Missense_Mutation_p.E81K	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	53					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAAACTGAAGAAATAGTTCA	0.308000													8	41					0	0	0.003080	0	0
ABCA13	154664	broad.mit.edu	37	7	48318168	48318168	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:48318168T>C	ENST00000435803.1	+	18	7401	c.7377T>C	c.(7375-7377)ttT>ttC	p.F2459F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2459					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTTTTCTTTATAAATAATT	0.343000													48	79					0	0	0.014410	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858320	183858320	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:183858320C>T	ENST00000273783.3	+	7	1080	c.958C>T	c.(958-960)Cct>Tct	p.P320S	EIF2B5_ENST00000444495.1_Missense_Mutation_p.P320S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	320					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGGTCTACCCTCTCACCCC	0.577000													93	129					0	0	0.014410	0	0
OBSCN	84033	broad.mit.edu	37	1	228509288	228509288	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:228509288C>T	ENST00000570156.2	+	66	17691	c.17617C>T	c.(17617-17619)Cgg>Tgg	p.R5873W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4916W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4916W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2035W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2550W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4916	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGATGCCCTGCGGCTGGAGTG	0.617000													17	21					0	0	0.008871	0	0
NME2	4831	broad.mit.edu	37	17	49231768	49231768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:49231768C>T	ENST00000555572.1	+	2	210	c.34C>T	c.(34-36)Caa>Taa	p.Q12*	NME1_ENST00000336097.3_Nonsense_Mutation_p.Q12*|NME1_ENST00000480143.1_Nonsense_Mutation_p.Q12*|NME1_ENST00000511355.1_Intron|NME1_ENST00000393196.3_Intron|NME2_ENST00000376392.6_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000393198.3_Intron|NME1-NME2_ENST00000608447.1_Nonsense_Mutation_p.Q12*|NME1_ENST00000013034.3_Nonsense_Mutation_p.Q12*					NME/NM23 nucleoside diphosphate kinase 2											endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GATCGTCTTTCAAGGCGAGGG	0.478000													31	99					0	0	0.003755	0	0
SUPT20H	55578	broad.mit.edu	37	13	37584737	37584737	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:37584737C>T	ENST00000350612.6	-	25	2374	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q	SUPT20H_ENST00000475892.1_Intron|SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000356185.3_Intron	NM_001014286.2	NP_001014308.2			suppressor of Ty 20 homolog (S. cerevisiae)																		GCTGGAATCTCTGCTGAGGAA	0.463000													21	56					0	0	0.002780	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558714	52558714	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:52558714G>A	ENST00000307076.4	-	14	1735	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	NT5DC2_ENST00000459839.1_Silent_p.F457F|NT5DC2_ENST00000422318.2_Silent_p.F482F|NT5DC2_ENST00000307092.4_Silent_p.F386F	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	445							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGATGCTGCCGAACTGCGCAT	0.627000													15	38					0	0	0.003163	0	0
SEPSECS	51091	broad.mit.edu	37	4	25160685	25160685	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:25160685G>C	ENST00000382103.2	-	2	231	c.159C>G	c.(157-159)ctC>ctG	p.L53L	SEPSECS_ENST00000302922.3_Intron	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	53					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	CATGTAAAAAGAGTTCAAGTG	0.393000													27	64					0	0	0.007291	0	0
NLRP3	114548	broad.mit.edu	37	1	247588705	247588705	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:247588705G>A	ENST00000366497.2	+	4	2740	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	NLRP3_ENST00000391828.3_Missense_Mutation_p.E654K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E654K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E654K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E654K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E654K|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	654					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCCAAGATTGAGATCAATCT	0.498000													11	36					0	0	0.008291	0	0
SKA3	221150	broad.mit.edu	37	13	21736001	21736001	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:21736001C>T	ENST00000314759.5	-	5	881	c.757G>A	c.(757-759)Gat>Aat	p.D253N	SKA3_ENST00000400018.3_Missense_Mutation_p.D253N	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	253					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GATTCTGTATCTATGGCCTCC	0.363000													6	15					0	0	0.001984	0	0
MLLT6	4302	broad.mit.edu	37	17	36863784	36863784	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:36863784G>A	ENST00000325718.7	+	3	326	c.235G>A	c.(235-237)Gat>Aat	p.D79N	MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.D79N	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	79					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAAGAGGACTGATAATGGAGG	0.612000			T	MLL	AL								19	90					0	0	0.010504	0	0
OR51B6	390058	broad.mit.edu	37	11	5373369	5373369	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:5373369T>A	ENST00000380219.1	+	1	632	c.632T>A	c.(631-633)aTc>aAc	p.I211N	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTTTCTCATCATCTTTTTC	0.443000													44	28					0	0	0.014410	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84547489	84547489	+	RNA	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:84547489C>G	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							CCTAGGAACTCATATGATGCA	0.453000													8	10					0	0	0.010729	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713754	32713754	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:32713754A>G	ENST00000374940.3	+	3	620	c.518A>G	c.(517-519)aAg>aGg	p.K173R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	173	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCTTCTTCAAGATCAGTTAC	0.517000													26	182					0	0	0.007291	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176070159	176070159	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:176070159C>T	ENST00000318682.6	+	4	676	c.92C>T	c.(91-93)aCa>aTa	p.T31I	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.T31I	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	31					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)			AGGACGCCCACAGGAGAAAAG	0.592000													19	26					0	0	0.008871	0	0
ZNF846	162993	broad.mit.edu	37	19	9868197	9868197	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:9868197G>C	ENST00000397902.2	-	6	1969	c.1556C>G	c.(1555-1557)tCa>tGa	p.S519*	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S519L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGCAAGTGCTGAAGATTGAGT	0.368000													43	122					0	0	0.010771	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	20					0	0	0.004672	0	0
OR10G2	26534	broad.mit.edu	37	14	22102290	22102290	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:22102290C>A	ENST00000542433.1	-	1	806	c.709G>T	c.(709-711)Gat>Tat	p.D237Y		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	237					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)		CGCCTCCCATCAGCGGTGCGT	0.542000													21	24					7.45023e-12	7.98521e-12	0.010504	1	0
MRGPRE	116534	broad.mit.edu	37	11	3249790	3249790	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:3249790G>A	ENST00000389832.5	-	2	546	c.240C>T	c.(238-240)atC>atT	p.I80I	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.I79I			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	79						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCGGGGACGATGGCCACCA	0.622000													62	31					0	0	0.014410	0	0
VPS11	55823	broad.mit.edu	37	11	118948238	118948238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:118948238G>A	ENST00000300793.6	+	10	1492	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	485					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGTCCACTTTGATGTGGAGAC	0.507000													33	12					0	0	0.005524	0	0
PKN2	5586	broad.mit.edu	37	1	89236127	89236127	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:89236127G>T	ENST00000370521.3	+	4	956	c.597G>T	c.(595-597)caG>caT	p.Q199H	PKN2_ENST00000370513.5_Missense_Mutation_p.Q199H|PKN2_ENST00000370505.3_Missense_Mutation_p.Q42H|PKN2_ENST00000316005.7_Missense_Mutation_p.Q199H	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	199					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGGCAGTCCAGACTAATGAAT	0.408000													27	38					7.01153e-11	7.47526e-11	0.007291	1	0
GCHFR	2644	broad.mit.edu	37	15	41056393	41056393	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:41056393C>T	ENST00000260447.4	+	1	176	c.15C>T	c.(13-15)ctC>ctT	p.L5L	GCHFR_ENST00000561160.1_Silent_p.L5L|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Silent_p.L5L	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	5					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CCTACCTGCTCATCAGCACCC	0.701000													4	1					0	0	0.009096	0	0
AVL9	23080	broad.mit.edu	37	7	32598734	32598734	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:32598734G>A	ENST00000318709.4	+	10	1094	c.873G>A	c.(871-873)atG>atA	p.M291I	AVL9_ENST00000409301.1_Missense_Mutation_p.M291I|AVL9_ENST00000404479.1_Missense_Mutation_p.M291I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	291						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATGCTGCCATGAAGACTGAGG	0.463000													10	18					0	0	0.010729	0	0
TRPA1	8989	broad.mit.edu	37	8	72987642	72987642	+	Translation_Start_Site	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:72987642C>T	ENST00000262209.4	-	1	210	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGCTGCGCTTCATTGACCCCA	0.657000													49	54					0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	90074805	90074805	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:90074805G>C	ENST00000405460.2	+	64	13069	c.12973G>C	c.(12973-12975)Gaa>Caa	p.E4325Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4325	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCCTCTTTGAAGCAGGGGA	0.488000													28	61					0	0	0.005443	0	0
TCTA	6988	broad.mit.edu	37	3	49452277	49452277	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:49452277C>G	ENST00000273590.3	+	3	515	c.294C>G	c.(292-294)ctC>ctG	p.L98L	TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	98						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACGAACCTCTCAAAACCCACA	0.522000													5	23					0	0	0.001984	0	0
NOP56	10528	broad.mit.edu	37	20	2635071	2635071	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635071G>C	ENST00000329276.5	+	4	736	c.220G>C	c.(220-222)Gag>Cag	p.E74Q		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	74					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGTTGTTCATGAGGACCTCCG	0.542000													31	53					0	0	0.010818	0	0
PCDH10	57575	broad.mit.edu	37	4	134072451	134072451	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:134072451G>C	ENST00000264360.5	+	1	1982	c.1156G>C	c.(1156-1158)Gac>Cac	p.D386H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTGACCGCGACTCAGAGGA	0.587000													29	70					0	0	0.006320	0	0
PPP6R3	55291	broad.mit.edu	37	11	68363617	68363617	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:68363617G>A	ENST00000393799.2	+	19	2236	c.1969G>A	c.(1969-1971)Gca>Aca	p.A657T	PPP6R3_ENST00000527403.2_Missense_Mutation_p.A622T|PPP6R3_ENST00000393800.2_Missense_Mutation_p.A657T|PPP6R3_ENST00000534534.1_Missense_Mutation_p.A425T|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A577T|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A611T|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A651T|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A657T|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A628T|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A577T			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	657					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAGATGGAGCAAAGCAAGA	0.463000													3	75					0	0	0.004672	0	0
RELN	5649	broad.mit.edu	37	7	103194142	103194142	+	Missense_Mutation	SNP	G	G	C	rs141509094		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:103194142G>C	ENST00000428762.1	-	39	6093	c.5934C>G	c.(5932-5934)atC>atG	p.I1978M	RELN_ENST00000424685.2_Missense_Mutation_p.I1978M|RELN_ENST00000343529.5_Missense_Mutation_p.I1978M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1978					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATAAAGACCGATGTTACCAC	0.363000													14	24					0	0	0.003163	0	0
APPL2	55198	broad.mit.edu	37	12	105570747	105570747	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:105570747C>G	ENST00000258530.3	-	19	1944	c.1719G>C	c.(1717-1719)aaG>aaC	p.K573N	APPL2_ENST00000551662.1_Missense_Mutation_p.K579N|APPL2_ENST00000539978.2_Missense_Mutation_p.K530N	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	573	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.K573N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAACCAGTCTCTTGTTTTCTT	0.398000													30	34					0	0	0.007291	0	0
TPO	7173	broad.mit.edu	37	2	1459852	1459852	+	Missense_Mutation	SNP	G	G	T	rs144088710		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:1459852G>T	ENST00000345913.4	+	7	708	c.617G>T	c.(616-618)cGg>cTg	p.R206L	TPO_ENST00000329066.4_Missense_Mutation_p.R206L|TPO_ENST00000346956.3_Missense_Mutation_p.R206L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.R206L|TPO_ENST00000337415.3_Missense_Mutation_p.R206L|TPO_ENST00000349624.3_Missense_Mutation_p.R206L|TPO_ENST00000382198.1_Missense_Mutation_p.R206L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	206					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCCAGGTCCGGGAGGTGACA	0.502000													4	19					0.000602214	0.000632011	0.000602	1	0
CCND3	896	broad.mit.edu	37	6	41908144	41908144	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:41908144G>C	ENST00000511642.1	-	2	886	c.135C>G	c.(133-135)atC>atG	p.I45M	CCND3_ENST00000372987.4_Missense_Mutation_p.I76M|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372991.4_Missense_Mutation_p.I126M|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000510503.1_Missense_Mutation_p.I45M|CCND3_ENST00000372988.4_Missense_Mutation_p.I45M			P30281	CCND3_HUMAN	cyclin D3	126	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTCGGTGTAGATGCACAGTT	0.617000			T	IGH@	MM								27	78					0	0	0.006320	0	0
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:73334716G>A	ENST00000377767.4	-	20	2844	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	DIS3_ENST00000377780.4_Missense_Mutation_p.S885L|DIS3_ENST00000545453.1_Missense_Mutation_p.S753L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	915					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.S915L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328000										Multiple Myeloma(4;0.011)			53	36					0	0	0.014410	0	0
EVI5L	115704	broad.mit.edu	37	19	7928478	7928478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:7928478G>A	ENST00000270530.4	+	19	2471	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N	EVI5L_ENST00000538904.2_Missense_Mutation_p.D770N	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	759						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GTCCCCGCGCGATGCGCGCTT	0.687000													9	16					0	0	0.010729	0	0
TTLL10	254173	broad.mit.edu	37	1	1117193	1117193	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:1117193G>T	ENST00000379290.1	+	9	1001	c.828G>T	c.(826-828)caG>caT	p.Q276H	TTLL10_ENST00000379288.3_Missense_Mutation_p.Q203H|TTLL10_ENST00000379289.1_Missense_Mutation_p.Q276H			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	276	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAGGCCACAGAGGTAGACTC	0.637000													10	13					2.52707e-12	2.72302e-12	0.006214	1	0
SUOX	6821	broad.mit.edu	37	12	56397462	56397462	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:56397462G>C	ENST00000394109.3	+	3	1013	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	SUOX_ENST00000266971.3_Missense_Mutation_p.E97Q|SUOX_ENST00000548274.1_Missense_Mutation_p.E97Q|SUOX_ENST00000394115.2_Missense_Mutation_p.E97Q|SUOX_ENST00000356124.4_Missense_Mutation_p.E97Q|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000550478.1_3'UTR			P51687	SUOX_HUMAN	sulfite oxidase	97	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACCAGCCCTGAGACTGGGAT	0.512000													19	86					0	0	0.007413	0	0
UNC13C	440279	broad.mit.edu	37	15	54630580	54630580	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:54630580C>T	ENST00000545554.1	+	16	4606	c.4606C>T	c.(4606-4608)Cca>Tca	p.P1536S	UNC13C_ENST00000260323.11_Missense_Mutation_p.P1536S|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1534S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1536					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAAAGCCCCCCAAAAGCGAG	0.403000													53	35					0	0	0.014410	0	0
HSCB	150274	broad.mit.edu	37	22	29153094	29153094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:29153094G>C	ENST00000216027.3	+	6	710	c.645G>C	c.(643-645)ttG>ttC	p.L215F	HSCB_ENST00000398941.2_3'UTR|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	215					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGGAAATTTTGACAAAGATGA	0.323000													44	98					0	0	0.014410	0	0
HRH1	3269	broad.mit.edu	37	3	11301783	11301783	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:11301783G>A	ENST00000397056.1	+	3	1251	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	HRH1_ENST00000431010.2_Missense_Mutation_p.D354N|HRH1_ENST00000438284.2_Missense_Mutation_p.D354N	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	354					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GATGTTAGGTGATAGCCAATC	0.527000													35	49					0	0	0.013726	0	0
NBPF1	55672	broad.mit.edu	37	1	16890650	16890650	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16890650G>T	ENST00000430580.2	-	29	4095	c.3208C>A	c.(3208-3210)Cct>Act	p.P1070T		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1050	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGACTTCAGGCTCTTCCACT	0.468000													24	427					3.40343e-31	3.75776e-31	0.014410	1	0
PACRGL	133015	broad.mit.edu	37	4	20715142	20715142	+	Silent	SNP	C	C	T	rs139070230	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:20715142C>T	ENST00000360916.5	+	7	980	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	PACRGL_ENST00000538990.1_Silent_p.L99L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000295290.8_Silent_p.L197L|PACRGL_ENST00000444671.2_Silent_p.L99L|PACRGL_ENST00000507634.1_Silent_p.L197L|PACRGL_ENST00000503585.1_Silent_p.L197L|PACRGL_ENST00000502374.1_Silent_p.L144L|PACRGL_ENST00000513459.1_Silent_p.L144L	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	197							binding			endometrium(2)|lung(7)|prostate(1)	10						AAACGACCATCTGAAGCATCT	0.388000													21	39					0	0	0.008871	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308000													6	36					0	0	0.003080	0	0
HSPG2	3339	broad.mit.edu	37	1	22178283	22178283	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:22178283C>T	ENST00000374695.3	-	54	7086		c.e54+1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCCCACTCACGGTAGGCTAA	0.637000													33	39					0	0	0.003755	0	0
DENND4B	9909	broad.mit.edu	37	1	153902811	153902811	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:153902811C>T	ENST00000361217.4	-	28	4871	c.4453G>A	c.(4453-4455)Gac>Aac	p.D1485N		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1485										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCGGCAGTCAATGGCCTTG	0.547000													12	34					0	0	0.013537	0	0
PUS1	80324	broad.mit.edu	37	12	132426465	132426465	+	Silent	SNP	G	G	C	rs142637371		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132426465G>C	ENST00000542167.2	+	4	1767	c.1014G>C	c.(1012-1014)ctG>ctC	p.L338L	PUS1_ENST00000376649.3_Silent_p.L391L|PUS1_ENST00000443358.2_Silent_p.L363L|PUS1_ENST00000440818.2_Silent_p.L363L|PUS1_ENST00000535067.1_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	391						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCCAGTGGCTGAGCACCTTGC	0.637000													33	24					0	0	0.012213	0	0
TNIK	23043	broad.mit.edu	37	3	170945999	170945999	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:170945999G>C	ENST00000436636.2	-	3	479	c.135C>G	c.(133-135)gtC>gtG	p.V45V	TNIK_ENST00000341852.6_Silent_p.V45V|TNIK_ENST00000475336.1_Silent_p.V45V|TNIK_ENST00000460047.1_Silent_p.V45V|TNIK_ENST00000488470.1_Silent_p.V45V|TNIK_ENST00000284483.8_Silent_p.V45V|TNIK_ENST00000357327.5_Silent_p.V45V|TNIK_ENST00000369326.5_Silent_p.V45V|TNIK_ENST00000470834.1_Silent_p.V45V|TNIK_ENST00000538048.1_Silent_p.V45V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	45	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGCCCGTTTTGACATGACGAC	0.383000													81	42					0	0	0.014410	0	0
PCDH12	51294	broad.mit.edu	37	5	141336156	141336156	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:141336156C>T	ENST00000231484.3	-	1	2471	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	421	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCACTGCTCTCTGTCCAGT	0.498000													38	78					0	0	0.005524	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50403560	50403560	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:50403560A>G	ENST00000435965.1	-	33	2938	c.2765T>C	c.(2764-2766)cTg>cCg	p.L922P	XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.L915P|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.L915P|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.L922P|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.L915P|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.L923P|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.L846P|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.L916P			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	922					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCCAGCATCAGGTTGGCATC	0.567000													3	92					0	0	0.004672	0	0
ZNF479	90827	broad.mit.edu	37	7	57188660	57188660	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:57188660G>A	ENST00000331162.4	-	5	732	c.462C>T	c.(460-462)aaC>aaT	p.N154N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N154K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAATATTTTGTTTTGGGTAG	0.289000													21	49					0	0	0.003954	0	0
PDE4A	5141	broad.mit.edu	37	19	10561309	10561309	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:10561309C>T	ENST00000380702.2	+	6	585	c.585C>T	c.(583-585)gtC>gtT	p.V195V	PDE4A_ENST00000440014.2_Silent_p.V156V|PDE4A_ENST00000592685.1_Silent_p.V195V|PDE4A_ENST00000352831.6_Silent_p.V217V|PDE4A_ENST00000293683.5_Silent_p.V191V			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	217					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCACCCCTGTCTGCAAGGCCA	0.672000													10	18					0	0	0.013537	0	0
SULF2	55959	broad.mit.edu	37	20	46313304	46313304	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:46313304C>T	ENST00000359930.4	-	6	1610	c.759G>A	c.(757-759)gcG>gcA	p.A253A	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.A253A|SULF2_ENST00000467815.1_Silent_p.A253A|SULF2_ENST00000484875.1_Silent_p.A253A	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	253					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCGGGTTGGGCGCGTAGTTGT	0.632000													8	46					0	0	0.003080	0	0
SSPO	23145	broad.mit.edu	37	7	149476138	149476138	+	RNA	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:149476138G>C	ENST00000378016.2	+	0	1016							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCCAGGCGGAGGGCTGGCC	0.637000													12	23					0	0	0.013537	0	0
ZNF251	90987	broad.mit.edu	37	8	145947781	145947781	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:145947781C>T	ENST00000292562.7	-	5	1539	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTTACGTGTTCAGTAAGATGA	0.448000													58	68					0	0	0.014410	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978677	148978677	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:148978677G>T	ENST00000434415.1	+	6	1047	c.884G>T	c.(883-885)gGc>gTc	p.G295V	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	295					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GTGTCCCGAGGCCAGACCGAG	0.652000													25	45					6.32553e-13	6.83429e-13	0.004656	1	0
PCDHB17P	54661	broad.mit.edu	37	5	140536855	140536855	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:140536855T>C	ENST00000539533.1	+	1	1279	c.1279T>C	c.(1279-1281)Ttg>Ctg	p.L427L																								TGTCACAGACTTGGGGACACC	0.502000													15	38					0	0	0.002450	0	0
CD1A	909	broad.mit.edu	37	1	158227240	158227240	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:158227240T>G	ENST00000289429.5	+	5	1446	c.913T>G	c.(913-915)Ttg>Gtg	p.L305V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	305					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTTCATCATCTTGGCGGTGAT	0.458000													72	243					0	0	0.014410	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686706	68686706	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:68686706G>A	ENST00000361320.4	+	2	610	c.32G>A	c.(31-33)gGa>gAa	p.G11E	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	11						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTACTGAGCGGATCAGCTGTA	0.418000													13	29					0	0	0.004007	0	0
STAT4	6775	broad.mit.edu	37	2	191897696	191897696	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:191897696G>C	ENST00000392320.2	-	21	2346	c.2032C>G	c.(2032-2034)Cag>Gag	p.Q678E	STAT4_ENST00000358470.4_Missense_Mutation_p.Q678E	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	678					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCGCAAGGCTGAGAGCTGTAG	0.368000													11	37					0	0	0.010729	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788517	156788517	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:156788517G>A	ENST00000347377.6	+	26	3381	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	CYFIP2_ENST00000377576.3_Missense_Mutation_p.E984K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E683K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1009K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E788K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E958K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E909K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1009					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGACATCATTGAGTACGCAGA	0.542000													11	19					0	0	0.013537	0	0
CD84	8832	broad.mit.edu	37	1	160523264	160523264	+	Missense_Mutation	SNP	G	G	C	rs145496946		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:160523264G>C	ENST00000368054.3	-	4	699	c.664C>G	c.(664-666)Cac>Gac	p.H222D	CD84_ENST00000368051.3_Missense_Mutation_p.H222D|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.H108D|CD84_ENST00000311224.4_Missense_Mutation_p.H222D|CD84_ENST00000368048.3_Missense_Mutation_p.H222D	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	222					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCGGTGTGGTGAGTACGGAAG	0.488000													21	46					0	0	0.014323	0	0
POM121L12	285877	broad.mit.edu	37	7	53103750	53103750	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:53103750A>G	ENST00000408890.4	+	1	402	c.386A>G	c.(385-387)aAc>aGc	p.N129S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	129										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTGCCTGGAACCCAGGACGG	0.711000													20	33					0	0	0.003330	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017394	101017394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:101017394C>T	ENST00000537247.1	+	10	1453	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.Q271*|GAS2L3_ENST00000539410.1_Nonsense_Mutation_p.Q271*|GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.Q271*			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	271	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGATACTCTTCAAGGATTTTT	0.378000													74	59					0	0	0.014410	0	0
RXRA	6256	broad.mit.edu	37	9	137293649	137293649	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:137293649T>C	ENST00000481739.1	+	2	252	c.200T>C	c.(199-201)gTc>gCc	p.V67A	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	67	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTTTCTCGGTCATCAGCTCC	0.692000													3	117					0	0	0.004672	0	0
SCAF1	58506	broad.mit.edu	37	19	50155955	50155955	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:50155955G>A	ENST00000360565.3	+	7	2433	c.2309G>A	c.(2308-2310)cGg>cAg	p.R770Q		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	770	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGTCTCGTCGGAAGGCGCTG	0.706000													4	5					0	0	0.009096	0	0
DSP	1832	broad.mit.edu	37	6	7584100	7584100	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:7584100C>T	ENST00000379802.3	+	24	6946	c.6605C>T	c.(6604-6606)tCa>tTa	p.S2202L	DSP_ENST00000418664.2_Missense_Mutation_p.S1603L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2202	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCTTGCTTTCAGTACAGAAG	0.458000													38	52					0	0	0.006999	0	0
SCAF11	9169	broad.mit.edu	37	12	46342235	46342235	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:46342235G>C	ENST00000369367.3	-	5	616	c.383C>G	c.(382-384)tCt>tGt	p.S128C	SCAF11_ENST00000419565.2_Missense_Mutation_p.S128C	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	128					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACAGCTTTTAGAATTTTCATG	0.313000													14	46					0	0	0.001855	0	0
MYF5	4617	broad.mit.edu	37	12	81111211	81111211	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:81111211C>T	ENST00000228644.3	+	1	521	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	123	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGGTGGAGATCCTCAGGAATG	0.597000													22	134					0	0	0.002780	0	0
CYP46A1	10858	broad.mit.edu	37	14	100157465	100157465	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:100157465G>A	ENST00000261835.3	+	2	271	c.167G>A	c.(166-168)gGt>gAt	p.G56D	CYP46A1_ENST00000423126.2_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	56					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GATGAGGTTGGTGGCCGTGTG	0.493000													38	66					0	0	0.010771	0	0
HSPA1A	3303	broad.mit.edu	37	6	31783561	31783561	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:31783561G>A	ENST00000375651.5	+	1	271	c.28G>A	c.(28-30)Gac>Aac	p.D10N	HSPA1A_ENST00000608703.1_Missense_Mutation_p.D10N|HSPA1A_ENST00000458062.2_Missense_Mutation_p.D10N	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	10					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						GATCGGCATCGACCTGGGCAC	0.647000													40	34					0	0	0.014410	0	0
TOB1	10140	broad.mit.edu	37	17	48940478	48940478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:48940478G>A	ENST00000499247.2	-	2	1334	c.901C>T	c.(901-903)Ctc>Ttc	p.L301F	TOB1_ENST00000268957.3_Missense_Mutation_p.L301F	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	301					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGTACTGGAGAGGACTGAGG	0.413000													43	47					0	0	0.014410	0	0
BAI1	575	broad.mit.edu	37	8	143603352	143603352	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:143603352C>T	ENST00000517894.1	+	21	3945	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	BAI1_ENST00000323289.5_Silent_p.F1017F			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1017					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCCGCCTTCCTGCACTTCT	0.687000													3	14					0	0	0.004672	0	0
MTIF2	4528	broad.mit.edu	37	2	55464514	55464514	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:55464514C>A	ENST00000394600.3	-	16	2657	c.1921G>T	c.(1921-1923)Gtt>Ttt	p.V641F	MTIF2_ENST00000263629.4_Missense_Mutation_p.V641F|MTIF2_ENST00000403721.1_Missense_Mutation_p.V641F	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	641					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GCCACAGGAACTTTTTTCTTC	0.373000													11	49					1.08611e-07	1.14882e-07	0.010729	1	0
ZNF548	147694	broad.mit.edu	37	19	57908503	57908503	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:57908503G>A	ENST00000366197.5	+	2	353	c.103G>A	c.(103-105)Gat>Aat	p.D35N	AC003002.6_ENST00000600421.1_3'UTR|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.D47N|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.D47N|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.D47N	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGTACCGTGATGTGATGCT	0.532000													169	425					0	0	0.014410	0	0
STAB1	23166	broad.mit.edu	37	3	52547747	52547747	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:52547747G>C	ENST00000321725.6	+	31	3361	c.3285G>C	c.(3283-3285)caG>caC	p.Q1095H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1095	FAS1 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGGTGCAGAATGCCAGCG	0.597000													6	17					0	0	0.001168	0	0
SLC6A13	6540	broad.mit.edu	37	12	344379	344379	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:344379G>A	ENST00000343164.4	-	7	760	c.708C>T	c.(706-708)ttC>ttT	p.F236F	SLC6A13_ENST00000445055.2_Silent_p.F144F	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	236					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGTGGCCGTGAAGTACACCA	0.567000													5	20					0	0	0.001984	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874708	144874708	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:144874708C>G	ENST00000369359.4	-	33	5346	c.5308G>C	c.(5308-5310)Gag>Cag	p.E1770Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1634Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1590Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1634Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1770Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1634					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTTCTTCTCTTCATAGTGT	0.517000			T	PDGFRB	MPD								36	314					0	0	0.005524	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866385	39866385	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:39866385G>C	ENST00000314471.6	+	7	1798	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	SAMD4B_ENST00000596368.1_Missense_Mutation_p.E255Q|SAMD4B_ENST00000598913.1_Missense_Mutation_p.E255Q	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	255							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAGTCCAGAGGAGCTTGGGGC	0.652000													166	173					0	0	0.014410	0	0
CERKL	375298	broad.mit.edu	37	2	182438553	182438553	+	Missense_Mutation	SNP	T	T	A	rs149505471		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:182438553T>A	ENST00000410087.3	-	3	640	c.540A>T	c.(538-540)aaA>aaT	p.K180N	CERKL_ENST00000339098.5_Missense_Mutation_p.K180N|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Intron|CERKL_ENST00000374970.2_Missense_Mutation_p.K180N	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	180	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGTAGCTTCTTTTTTGTGAC	0.333000													19	34					0	0	0.012319	0	0
FOXB2	442425	broad.mit.edu	37	9	79634833	79634833	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:79634833C>T	ENST00000376708.1	+	1	263	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	88					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						AGCTTCTGGGCGCTGCACCCC	0.642000													55	14					0	0	0.014410	0	0
AKAP9	10142	broad.mit.edu	37	7	91631551	91631551	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:91631551G>A	ENST00000359028.2	+	9	2581	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E774K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E786K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	786	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCACAACTTGAAGCAGAGAA	0.303000			T	BRAF	papillary thyroid								12	68					0	0	0.013537	0	0
NIP7	51388	broad.mit.edu	37	16	69373430	69373430	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:69373430G>A	ENST00000254940.5	+	0	98				COG8_ENST00000562081.1_Missense_Mutation_p.S9L|COG8_ENST00000306875.4_Missense_Mutation_p.S9L|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein						ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				CGTGGCTACCGATGGGATAGT	0.652000											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	4					0	0	0.008871	0	0
FGD5	152273	broad.mit.edu	37	3	14922086	14922086	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:14922086G>A	ENST00000285046.5	+	3	2776	c.2666G>A	c.(2665-2667)gGa>gAa	p.G889E	FGD5_ENST00000543601.1_Missense_Mutation_p.G648E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	889					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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGTGGAAGGACAGTCCAGA	0.527000													16	22					0	0	0.003163	0	0
INO80E	283899	broad.mit.edu	37	16	30007659	30007659	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:30007659G>C	ENST00000563197.1	+	1	1045	c.28G>C	c.(28-30)Gac>Cac	p.D10H	INO80E_ENST00000567254.1_Missense_Mutation_p.D10H|INO80E_ENST00000304516.7_Missense_Mutation_p.D10H|INO80E_ENST00000567705.1_Missense_Mutation_p.D10H|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000563040.1_3'UTR	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	10					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CGGCGAAGTGGACTACAAAAA	0.652000													5	10					0	0	0.001168	0	0
CAPS2	84698	broad.mit.edu	37	12	75676043	75676043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:75676043G>A	ENST00000393284.3	-	16	1562	c.961C>T	c.(961-963)Caa>Taa	p.Q321*	CAPS2_ENST00000442339.2_Nonsense_Mutation_p.Q143*|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.Q471*|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.Q553*|RP11-560G2.1_ENST00000549953.1_RNA			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	553							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAAATTACTTGAGAATGCTTC	0.284000													21	106					0	0	0.010504	0	0
CST9L	128821	broad.mit.edu	37	20	23549013	23549013	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:23549013C>T	ENST00000376979.3	-	1	373	c.75G>A	c.(73-75)ctG>ctA	p.L25L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	25						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGCATAGATCAGCAGGATCT	0.567000													33	21					0	0	0.012213	0	0
BEND6	221336	broad.mit.edu	37	6	56880031	56880031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:56880031G>A	ENST00000370746.3	+	4	668	c.399G>A	c.(397-399)tgG>tgA	p.W133*	BEND6_ENST00000545789.1_Nonsense_Mutation_p.W35*|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	133										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCACCCTCTGGAGAGCAACAA	0.478000													31	49					0	0	0.007291	0	0
GMDS	2762	broad.mit.edu	37	6	1726724	1726724	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1726724C>T	ENST00000380815.4	-	9	1182	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	GMDS_ENST00000530927.1_Missense_Mutation_p.E275K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	305					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTGCCCACTTCATTTTCATTC	0.493000													18	90					0	0	0.006122	0	0
UBE2O	63893	broad.mit.edu	37	17	74388108	74388108	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:74388108G>A	ENST00000319380.7	-	16	3097	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1011							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CGGCTGGGTAGATGTTGGGGA	0.592000													21	25					0	0	0.002780	0	0
FER1L6	654463	broad.mit.edu	37	8	125035748	125035748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:125035748C>T	ENST00000522917.1	+	18	2404	c.2198C>T	c.(2197-2199)gCc>gTc	p.A733V	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A733V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	733						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTGGCCTATGCCCGCATCGCC	0.527000													4	100					0	0	0.001168	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014889	183014889	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:183014889G>C	ENST00000328913.3	-	12	1669	c.1372C>G	c.(1372-1374)Cga>Gga	p.R458G	B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R458G|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R458G|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R458G	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	458					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)			ACCCCTTCTCGAGACTGGCAC	0.517000													8	90					0	0	0.006214	0	0
CACNB1	782	broad.mit.edu	37	17	37331640	37331640	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37331640G>A	ENST00000394303.3	-	14	1810	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	535					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCCCCTGCAGGGTCTCCAAGC	0.657000											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	357					0	0	0.014410	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687403	3687403	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:3687403G>A	ENST00000250699.2	-	5	1358	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	429					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TGGCCAGGAAGAAGCGGTCCA	0.627000													49	20					0	0	0.014410	0	0
CAP1	10487	broad.mit.edu	37	1	40537148	40537148	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:40537148C>G	ENST00000372797.3	+	13	1932	c.1371C>G	c.(1369-1371)ttC>ttG	p.F457L	CAP1_ENST00000372802.1_Missense_Mutation_p.F456L|CAP1_ENST00000372792.2_Missense_Mutation_p.F457L|CAP1_ENST00000372798.1_Missense_Mutation_p.F456L|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.F456L|CAP1_ENST00000372805.3_Missense_Mutation_p.F457L	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	457					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGAGCAGTTCAAGACCCTAT	0.473000													18	11					0	0	0.007413	0	0
DBX1	120237	broad.mit.edu	37	11	20181520	20181520	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:20181520G>A	ENST00000524983.2	-	1	639	c.351C>T	c.(349-351)tcC>tcT	p.S117S	DBX1_ENST00000227256.3_Silent_p.S117S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	117					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGGGCCCCGAGGAGAGGATGG	0.642000													4	20					0	0	0.009096	0	0
FRAS1	80144	broad.mit.edu	37	4	79360104	79360104	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:79360104C>G	ENST00000264895.6	+	40	5855	c.5415C>G	c.(5413-5415)ttC>ttG	p.F1805L	FRAS1_ENST00000325942.6_Missense_Mutation_p.F1805L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1804					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGATAGCTTCTATTTCTCTG	0.388000													23	91					0	0	0.002780	0	0
CABIN1	23523	broad.mit.edu	37	22	24472152	24472152	+	Silent	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:24472152C>A	ENST00000398319.2	+	19	3052	c.2667C>A	c.(2665-2667)ctC>ctA	p.L889L	CABIN1_ENST00000263119.5_Silent_p.L889L|CABIN1_ENST00000405822.2_Silent_p.L839L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	889					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATCCTCCCTCATGCTGCTGA	0.587000													26	96					6.38683e-12	6.86371e-12	0.008361	1	0
PRKAA2	5563	broad.mit.edu	37	1	57171852	57171852	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:57171852G>A	ENST00000371244.4	+	8	1447	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	461					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.D461N(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTACCTGGTTGATAACAGGAG	0.378000													30	38					0	0	0.009535	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	40					0	0	0.009096	0	0
SEC31B	25956	broad.mit.edu	37	10	102249108	102249108	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:102249108C>T	ENST00000370345.3	-	23	3169	c.3072G>A	c.(3070-3072)atG>atA	p.M1024I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1024	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGTGAGGCTCATAACTGGAG	0.537000													22	37					0	0	0.014323	0	0
SNAI1	6615	broad.mit.edu	37	20	48604577	48604577	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:48604577C>T	ENST00000244050.2	+	3	840	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	260					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCCGGCTGCTCAGGATGTCCC	0.617000													37	33					0	0	0.005524	0	0
TUBB3	10381	broad.mit.edu	37	16	90001896	90001896	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:90001896C>T	ENST00000304984.5	+	3	3116	c.821C>T	c.(820-822)cCc>cTc	p.P274L	TUBB3_ENST00000315491.7_Missense_Mutation_p.P346L|TUBB3_ENST00000554444.1_Missense_Mutation_p.P274L|TUBB3_ENST00000556922.1_Missense_Mutation_p.P693L|TUBB3_ENST00000555576.1_Intron			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	346					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGTGGATCCCCAACAACGTG	0.612000													139	60					0	0	0.014410	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236757	33236757	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33236757C>T	ENST00000401073.2	+	6	2047	c.1977C>T	c.(1975-1977)gtC>gtT	p.V659V	KIAA1522_ENST00000373481.3_Silent_p.V611V|KIAA1522_ENST00000373480.1_Silent_p.V600V|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	600	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAGGTTTGTCATACCTCCTC	0.632000													68	77					0	0	0.014410	0	0
KCNC4	3749	broad.mit.edu	37	1	110775579	110775579	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:110775579C>G	ENST00000438661.2	+	4	1866	c.1866C>G	c.(1864-1866)gtC>gtG	p.V622V	KCNC4_ENST00000413138.3_3'UTR|KCNC4_ENST00000369787.3_3'UTR|KCNC4_ENST00000412512.2_Intron	NM_001039574.2	NP_001034663.1	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	0					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCTGAAGTCCTCACCCTCT	0.537000													5	12					0	0	0.000602	0	0
RBP1	5947	broad.mit.edu	37	3	139258320	139258320	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:139258320C>T	ENST00000483943.2	-	1	241	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RBP1_ENST00000492918.1_Missense_Mutation_p.E81K|RBP1_ENST00000232219.2_Missense_Mutation_p.E81K|RP11-319G6.1_ENST00000515247.1_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	19						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CGCAGGTACTCCTCGAAATTC	0.677000													11	8					0	0	0.013537	0	0
RPA3	6119	broad.mit.edu	37	7	7678739	7678739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:7678739C>A	ENST00000223129.4	-	6	1307	c.136G>T	c.(136-138)Gga>Tga	p.G46*	RPA3_ENST00000401447.1_Nonsense_Mutation_p.G7*|RPA3_ENST00000406109.1_Nonsense_Mutation_p.G7*|RPA3_ENST00000396682.2_Nonsense_Mutation_p.G46*	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	46					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TTTCCTTCTCCATCTGAAAGA	0.299000								Direct reversal of damage;Nucleotide excision repair (NER)					6	39					1.06961e-07	1.13435e-07	0.003080	1	0
NBPF1	55672	broad.mit.edu	37	1	16890565	16890565	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16890565C>T	ENST00000430580.2	-	29	4180	c.3293G>A	c.(3292-3294)aGa>aAa	p.R1098K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1078	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAACACACTTCTGTAGTGCTG	0.453000													115	860					0	0	0.014410	0	0
LYSMD1	388695	broad.mit.edu	37	1	151137595	151137595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:151137595C>T	ENST00000368908.5	-	1	800	c.140G>A	c.(139-141)gGa>gAa	p.G47E	LYSMD1_ENST00000440902.2_Intron	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	47					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGGTGTCTCCGGGCTCCAA	0.562000													26	27					0	0	0.004656	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301609	38301609	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:38301609G>A	ENST00000260630.3	-	2	1324	c.923C>T	c.(922-924)tCg>tTg	p.S308L	CYP1B1_ENST00000407341.1_Missense_Mutation_p.S308L|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	308					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACCACCGTGCGAGTCCCCGGC	0.652000													20	27					0	0	0.010504	0	0
PRKD2	25865	broad.mit.edu	37	19	47219391	47219391	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:47219391C>T	ENST00000433867.1	-	2	714	c.237G>A	c.(235-237)caG>caA	p.Q79Q	PRKD2_ENST00000291281.4_Silent_p.Q79Q|PRKD2_ENST00000595515.1_Silent_p.Q79Q|PRKD2_ENST00000601806.1_5'UTR	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	79					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCCTCACCTTCTGGTCCACGA	0.657000													50	43					0	0	0.014410	0	0
CXCL14	9547	broad.mit.edu	37	5	134910273	134910273	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:134910273G>A	ENST00000337225.5	-	3	773	c.309C>T	c.(307-309)aaC>aaT	p.N103N	CXCL14_ENST00000512158.1_Silent_p.N91N|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	103					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTTCTCGTTCCAGGCGT	0.617000													9	20					0	0	0.006214	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150621093	150621093	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:150621093G>T	ENST00000271732.3	-	5	606	c.562C>A	c.(562-564)Cat>Aat	p.H188N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.H144N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	188						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	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;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACTGGATGAGTAGTCATG	0.443000													9	39					5.68852e-11	6.08084e-11	0.004482	1	0
PSMB5	5693	broad.mit.edu	37	14	23502856	23502856	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:23502856C>G	ENST00000361611.6	-	2	489	c.226G>C	c.(226-228)Gac>Cac	p.D76H	PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000493471.2_Missense_Mutation_p.D76H|PSMB5_ENST00000425762.2_5'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GCCCTGGAGTCAGCTGCAACT	0.507000													14	27					0	0	0.003163	0	0
PZP	5858	broad.mit.edu	37	12	9346775	9346775	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:9346775C>G	ENST00000261336.2	-	11	1180	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	PZP_ENST00000381997.2_Silent_p.V253V	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGCGTCATTCACAGAGATGA	0.408000													20	38					0	0	0.010504	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031997	26031997	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26031997C>T	ENST00000244661.2	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AAGTAGGCCTCACAAGCCTCC	0.567000													21	65					0	0	0.008871	0	0
NOP56	10528	broad.mit.edu	37	20	2635517	2635517	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635517G>C	ENST00000329276.5	+	5	1009	c.493G>C	c.(493-495)Gac>Cac	p.D165H		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	165					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GAACCGGGTGGACAATATGAT	0.502000													132	120					0	0	0.014410	0	0
LRP1	4035	broad.mit.edu	37	12	57579595	57579595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:57579595C>T	ENST00000243077.3	+	41	7211	c.6745C>T	c.(6745-6747)Ccg>Tcg	p.P2249S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2249					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGCACCTCTCCGGGCACCCC	0.577000													47	44					0	0	0.014410	0	0
CBX4	8535	broad.mit.edu	37	17	77808594	77808594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:77808594C>A	ENST00000269397.4	-	5	1024	c.847G>T	c.(847-849)Gag>Tag	p.E283*		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	283	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTGCCACCTCGCCGGACTTG	0.592000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	103					3.25985e-27	3.5894e-27	0.014410	1	0
CHRM3	1131	broad.mit.edu	37	1	240071762	240071762	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:240071762G>C	ENST00000255380.4	+	5	1790	c.1011G>C	c.(1009-1011)tgG>tgC	p.W337C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	337					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTGACAGTTGGAACAACAATG	0.572000													7	13					0	0	0.001984	0	0
PUS1	80324	broad.mit.edu	37	12	132426135	132426135	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132426135G>C	ENST00000542167.2	+	4	1437	c.684G>C	c.(682-684)gtG>gtC	p.V228V	PUS1_ENST00000376649.3_Silent_p.V281V|PUS1_ENST00000443358.2_Silent_p.V253V|PUS1_ENST00000440818.2_Silent_p.V253V|PUS1_ENST00000535067.1_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	281						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGTTTGCGGTGATCAGGGTGA	0.607000													60	56					0	0	0.014410	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095343	107095343	+	RNA	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:107095343C>T	ENST00000390630.2	-	0	237																											GCTGACGGAGCCACCAGAGAC	0.607000													2	0					0	0	0.004672	0	0
CHRM3	1131	broad.mit.edu	37	1	240071792	240071792	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:240071792G>A	ENST00000255380.4	+	5	1820	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	347					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCCCTGGAGAACTCCGCCT	0.572000													5	9					0	0	0.001168	0	0
C1QB	713	broad.mit.edu	37	1	22987517	22987517	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:22987517C>T	ENST00000509305.1	+	3	740	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	C1QB_ENST00000314933.6_Silent_p.L134L			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	134	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAACGTCCCCCTGCGCCGGGA	0.602000													23	84					0	0	0.014323	0	0
ACTN2	88	broad.mit.edu	37	1	236908062	236908062	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:236908062C>T	ENST00000366578.4	+	12	1558	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	ACTN2_ENST00000542672.1_Silent_p.I464I|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	464					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCGCAGCCATCGCGCAGGAGC	0.657000													16	37					0	0	0.004990	0	0
SOAT1	6646	broad.mit.edu	37	1	179320465	179320465	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:179320465C>G	ENST00000367619.3	+	15	1607	c.1464C>G	c.(1462-1464)ttC>ttG	p.F488L	SOAT1_ENST00000535686.1_Missense_Mutation_p.F224L|SOAT1_ENST00000540564.1_Missense_Mutation_p.F430L|SOAT1_ENST00000539888.1_Missense_Mutation_p.F423L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	488					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTCAACTTCATTGTCAATG	0.408000													39	97					0	0	0.008740	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436224	72436224	+	Silent	SNP	C	C	T	rs148101331		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:72436224C>T	ENST00000392627.1	+	2	1570	c.444C>T	c.(442-444)ctC>ctT	p.L148L	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.L115L|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	103						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCTTCTGCCTCGTGTTTGCCT	0.607000													38	69					0	0	0.006230	0	0
FAT3	120114	broad.mit.edu	37	11	92539552	92539552	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:92539552G>A	ENST00000298047.6	+	11	9135	c.9118G>A	c.(9118-9120)Gaa>Aaa	p.E3040K	FAT3_ENST00000409404.2_Missense_Mutation_p.E3040K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2890K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3040	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTACTTCCTGAAGACATTCC	0.358000										TCGA Ovarian(4;0.039)			11	5					0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	31039401	31039401	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:31039401C>G	ENST00000355537.3	+	4	3022	c.2875C>G	c.(2875-2877)Ccc>Gcc	p.P959A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	959					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)					TGAGGAGAAACCCAGTGGCAA	0.577000													9	185					0	0	0.004482	0	0
BIRC6	57448	broad.mit.edu	37	2	32626615	32626615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:32626615G>A	ENST00000421745.2	+	8	1476	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	448					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCAGGAGTTGATTCAAGGAG	0.398000													42	51					0	0	0.006230	0	0
MVK	4598	broad.mit.edu	37	12	110024578	110024578	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:110024578T>C	ENST00000228510.3	+	7	727	c.651T>C	c.(649-651)caT>caC	p.H217H	MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Silent_p.H165H|MVK_ENST00000392727.3_Silent_p.H165H|MVK_ENST00000541384.1_Silent_p.H23H	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	217					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TCCGATACCATCAAGGGAAGA	0.507000													7	124					0	0	0.003080	0	0
POLR3A	11128	broad.mit.edu	37	10	79740028	79740028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:79740028C>A	ENST00000372371.3	-	30	4032	c.3895G>T	c.(3895-3897)Gaa>Taa	p.E1299*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1299					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCAGGACTTCACCCTGCGTC	0.517000													16	22					1.15088e-07	1.21415e-07	0.004007	1	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													6	103					0	0	0.004482	0	0
SPEN	23013	broad.mit.edu	37	1	16258553	16258553	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16258553G>A	ENST00000375759.3	+	11	6022	c.5818G>A	c.(5818-5820)Gag>Aag	p.E1940K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1940					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGCTTCAGGAGGCTGCAGC	0.587000													18	73					0	0	0.010504	0	0
DOCK8	81704	broad.mit.edu	37	9	463637	463637	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:463637G>A	ENST00000432829.2	+	47	6301	c.5985G>A	c.(5983-5985)cgG>cgA	p.R1995R	RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|DOCK8_ENST00000453981.1_Silent_p.R2063R|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|DOCK8_ENST00000382329.1_Silent_p.R1530R|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|DOCK8_ENST00000469391.1_Silent_p.R1963R|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2063					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGATCGAGCGGAAAATTCCAG	0.458000													5	61					0	0	0.010729	0	0
GNB1L	54584	broad.mit.edu	37	22	19794230	19794230	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:19794230C>T	ENST00000329517.6	-	6	704	c.468G>A	c.(466-468)ccG>ccA	p.P156P	GNB1L_ENST00000405009.1_Silent_p.P156P|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Silent_p.P156P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	156					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CATCTGCCTTCGGCTTCAGGG	0.622000													29	35					0	0	0.003755	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084238	26084238	+	RNA	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:26084238G>C	ENST00000478176.1	-	0	219					NR_003678.1																						GAAGCATTTTGATCATCTCCA	0.393000													27	37					0	0	0.004656	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824272	55824272	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:55824272G>A	ENST00000326652.4	-	8	839	c.657C>T	c.(655-657)ctC>ctT	p.L219L	TMEM150B_ENST00000438693.1_Silent_p.L219L	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	219						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GCGGGGGGCTGAGGCTGGGCC	0.672000													7	13					0	0	0.004482	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564329	176564329	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:176564329T>C	ENST00000367662.3	+	3	2753	c.1589T>C	c.(1588-1590)gTg>gCg	p.V530A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.V530A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	530	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACCAGGTGGTGAACATCTGT	0.527000													19	28					0	0	0.007413	0	0
RANBP6	26953	broad.mit.edu	37	9	6015339	6015339	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:6015339G>C	ENST00000259569.5	-	1	279	c.269C>G	c.(268-270)cCt>cGt	p.P90R	RANBP6_ENST00000485372.1_Intron	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	90					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)		AACATCAGCAGGCAGATTTGG	0.433000													41	97					0	0	0.008740	0	0
WBSCR28	135886	broad.mit.edu	37	7	73275587	73275587	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:73275587C>G	ENST00000320531.2	+	1	99	c.63C>G	c.(61-63)ctC>ctG	p.L21L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	21						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTACGAGGCTCTCAGTGCTGG	0.642000													12	20					0	0	0.010729	0	0
PIK3R1	5295	broad.mit.edu	37	5	67576548	67576548	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:67576548C>G	ENST00000521381.1	+	6	1443	c.827C>G	c.(826-828)tCa>tGa	p.S276*	PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.S276*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.S276*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.S276*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	276	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTCAGATTCTCAGCAGCCAGG	0.383000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			11	31					0	0	0.008291	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285422	100285422	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:100285422C>T	ENST00000275732.5	-	3	1459	c.250G>A	c.(250-252)Gag>Aag	p.E84K	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	84										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGTTCCTCCTCAGTCAGCGGC	0.687000													23	62					0	0	0.005443	0	0
SH3GL1	6455	broad.mit.edu	37	19	4364106	4364106	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:4364106C>T	ENST00000269886.3	-	5	622	c.444G>A	c.(442-444)gaG>gaA	p.E148E	SH3GL1_ENST00000598564.1_Silent_p.E84E|SH3GL1_ENST00000417295.2_Silent_p.E100E|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	148	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCAGGTCTTTCTCGCACAGGT	0.632000			T	MLL	AL								23	15					0	0	0.003330	0	0
DST	667	broad.mit.edu	37	6	56473196	56473196	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:56473196G>C	ENST00000370754.5	-	39	6130	c.6131C>G	c.(6130-6132)tCt>tGt	p.S2044C	DST_ENST00000312431.6_Missense_Mutation_p.S1866C|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S1866C|DST_ENST00000361203.3_Missense_Mutation_p.S1866C|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S1540C			Q03001	DYST_HUMAN	dystonin	1866					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S1866F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTTCACCAGAATGGGGCCA	0.428000													33	79					0	0	0.009535	0	0
BTN1A1	696	broad.mit.edu	37	6	26501534	26501534	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26501534C>G	ENST00000244513.6	+	1	86	c.20C>G	c.(19-21)tCc>tGc	p.S7C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	7						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TTCCCAAGCTCCGGTCTCCCC	0.522000													40	55					0	0	0.010771	0	0
TPP2	7174	broad.mit.edu	37	13	103301811	103301811	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:103301811C>G	ENST00000376052.3	+	23	2943	c.2927C>G	c.(2926-2928)tCa>tGa	p.S976*	TPP2_ENST00000376065.4_Nonsense_Mutation_p.S976*			P29144	TPP2_HUMAN	tripeptidyl peptidase II	976					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAACATTGTCAAAGACTGAA	0.303000													12	72					0	0	0.004007	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367724	145367724	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:145367724G>C	ENST00000342960.5	+	83	10355	c.10320G>C	c.(10318-10320)aaG>aaC	p.K3440N	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3440										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)		AAATTGAAaagaaggggaagg	0.428000													14	125					0	0	0.004990	0	0
FGD5	152273	broad.mit.edu	37	3	14964612	14964612	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:14964612G>A	ENST00000285046.5	+	16	3977	c.3867G>A	c.(3865-3867)atG>atA	p.M1289I	FGD5_ENST00000543601.1_Missense_Mutation_p.M1048I|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1289				M -> T (in Ref. 5; CAE45896).	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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGACAGGATGGCCAAGGTCT	0.607000													31	50					0	0	0.009535	0	0
TMEM145	284339	broad.mit.edu	37	19	42827851	42827851	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:42827851C>T	ENST00000301204.3	+	14	1352	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	437						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACAAGGCCTTCCCGCAGCACG	0.642000													56	75					0	0	0.014410	0	0
ACOT13	55856	broad.mit.edu	37	6	24701842	24701842	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:24701842G>A	ENST00000537591.1	+	4	940	c.353G>A	c.(352-354)tGa>tAa	p.*118*	RP1-30M3.5_ENST00000607014.1_RNA|ACOT13_ENST00000230048.4_Silent_p.*141*|ACOT13_ENST00000476436.1_3'UTR	NM_001160094.1	NP_001153566.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	0					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						CTGGGAAACTGAGAGAACAGC	0.363000													44	49					0	0	0.011902	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906488	48906488	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:48906488G>A	ENST00000394754.1	+	11	3570	c.3456G>A	c.(3454-3456)aaG>aaA	p.K1152K	STON1-GTF2A1L_ENST00000394751.3_Silent_p.K1105K|GTF2A1L_ENST00000430487.2_Silent_p.K414K|STON1-GTF2A1L_ENST00000405008.1_Silent_p.K1152K|GTF2A1L_ENST00000403751.3_Silent_p.K448K|STON1-GTF2A1L_ENST00000309827.2_Silent_p.K1152K|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1105					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCGAAGCAAGAACAAATGGA	0.353000													29	35					0	0	0.005443	0	0
OR10G2	26534	broad.mit.edu	37	14	22102306	22102306	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:22102306C>T	ENST00000542433.1	-	1	790	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	231					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)		TGCGTATCTTCAGGATGGCAT	0.532000													18	24					0	0	0.006122	0	0
C19orf45	374877	broad.mit.edu	37	19	7565879	7565879	+	Silent	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:7565879G>T	ENST00000361664.2	+	2	312	c.171G>T	c.(169-171)ccG>ccT	p.P57P		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	57										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GGGAGCCGCCGAGCCTGCAGC	0.736000													7	7					0.00198382	0.00207657	0.001984	1	0
HIF1A	3091	broad.mit.edu	37	14	62207727	62207727	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:62207727G>A	ENST00000394997.1	+	12	2182	c.1917G>A	c.(1915-1917)ttG>ttA	p.L639L	HIF1A_ENST00000323441.6_Silent_p.L638L|HIF1A_ENST00000337138.4_Silent_p.L638L|HIF1A_ENST00000539097.1_Silent_p.L662L|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Silent_p.L579L			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	638	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TTAAAATATTGATTGCATCTC	0.408000													27	28					0	0	0.005443	0	0
UTRN	7402	broad.mit.edu	37	6	144860468	144860468	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:144860468C>G	ENST00000367545.3	+	44	6408	c.6408C>G	c.(6406-6408)ctC>ctG	p.L2136L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2136					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGAAAAACTCAAATGGCTGA	0.348000													13	32					0	0	0.013537	0	0
DCAKD	79877	broad.mit.edu	37	17	43112207	43112207	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:43112207G>A	ENST00000452796.2	-	1	302	c.47C>T	c.(46-48)tCa>tTa	p.S16L	DCAKD_ENST00000342350.5_Missense_Mutation_p.S16L|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000310604.4_Missense_Mutation_p.S16L|DCAKD_ENST00000588499.1_Missense_Mutation_p.S16L			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	16	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CTGGATCACTGAGCTCTTGCC	0.612000													8	46					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179424596	179424596	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:179424596C>T	ENST00000589042.1	-	326	86487	c.86263G>A	c.(86263-86265)Gat>Aat	p.D28755N	TTN_ENST00000460472.2_Missense_Mutation_p.D19690N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19815N|TTN_ENST00000342992.6_Missense_Mutation_p.D26187N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D27114N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19882N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27114	Fibronectin type-III 109.						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)			CTGTCAATATCAAATAAAGGT	0.433000													32	63					0	0	0.012213	0	0
SLC12A4	6560	broad.mit.edu	37	16	67986272	67986272	+	Silent	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:67986272C>A	ENST00000422611.2	-	6	777	c.738G>T	c.(736-738)tcG>tcT	p.S246S	SLC12A4_ENST00000576616.1_Silent_p.S244S|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000316341.3_Silent_p.S244S|SLC12A4_ENST00000572037.1_Silent_p.S196S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	244					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453000													44	16					1.32136e-16	1.43533e-16	0.008740	1	0
POLR1B	84172	broad.mit.edu	37	2	113315529	113315529	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:113315529G>C	ENST00000263331.5	+	8	1781	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.D345H|POLR1B_ENST00000537335.1_Missense_Mutation_p.D190H|POLR1B_ENST00000541869.1_Missense_Mutation_p.D439H|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	401					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AATAGCTTTTGATAAGAAGGC	0.343000													5	12					0	0	0.000602	0	0
PPP3CA	5530	broad.mit.edu	37	4	101984485	101984485	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:101984485T>C	ENST00000394854.3	-	9	1668	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000523694.2_Missense_Mutation_p.M262V|PPP3CA_ENST00000507176.1_Missense_Mutation_p.M231V|PPP3CA_ENST00000394853.4_Missense_Mutation_p.M329V|PPP3CA_ENST00000512215.1_Missense_Mutation_p.M97V	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	329					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTGATATTCATAACATTGTTC	0.363000													10	10					0	0	0.006214	0	0
PTCH1	5727	broad.mit.edu	37	9	98229643	98229643	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:98229643C>T	ENST00000430669.2	-	15	2702	c.2117G>A	c.(2116-2118)aGa>aAa	p.R706K	PTCH1_ENST00000331920.6_Missense_Mutation_p.R772K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R621K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R621K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R621K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R706K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R771K			Q13635	PTC1_HUMAN	patched 1	772					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V770fs(4)|p.V771fs(4)|p.D773fs*16(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGCCCGTCTCTCACTCGGGT	0.478000													43	16					0	0	0.011902	0	0
FBXO18	84893	broad.mit.edu	37	10	5955750	5955750	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:5955750A>T	ENST00000379999.5	+	8	1509	c.1405A>T	c.(1405-1407)Aat>Tat	p.N469Y	FBXO18_ENST00000362091.4_Missense_Mutation_p.N418Y|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	418					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TCTTCAGGAGAATTCCTGCAC	0.398000													5	69					0	0	0.001168	0	0
SMARCA4	6597	broad.mit.edu	37	19	11151989	11151989	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:11151989G>A	ENST00000358026.2	+	31	4557	c.4273G>A	c.(4273-4275)Gag>Aag	p.E1425K	SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1363K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1360K|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1360K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1363K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1363K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1393K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1393K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1363K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1393					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGCCATCGAGGAGGGCAC	0.627000			"""F, N, Mis"""		NSCLC								48	48					0	0	0.014410	0	0
BTBD16	118663	broad.mit.edu	37	10	124036305	124036305	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:124036305G>A	ENST00000260723.4	+	3	269		c.e3-1		BTBD16_ENST00000368994.2_Silent_p.Q7Q	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16											breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTACCAAGCAGCACAAAGCTC	0.448000													3	97					0	0	0.004672	0	0
ITCH	83737	broad.mit.edu	37	20	33026353	33026353	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:33026353C>G	ENST00000374864.4	+	8	809	c.596C>G	c.(595-597)tCt>tGt	p.S199C	ITCH_ENST00000262650.6_Missense_Mutation_p.S240C|ITCH_ENST00000535650.1_Missense_Mutation_p.S89C	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	240					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGGAATAATTCTCCATCACTC	0.483000													72	56					0	0	0.014410	0	0
TTLL8	164714	broad.mit.edu	37	22	50471761	50471761	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:50471761T>G	ENST00000266182.6	-	10	1152	c.1153A>C	c.(1153-1155)Atc>Ctc	p.I385L	TTLL8_ENST00000440475.1_Missense_Mutation_p.I365L					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTGTCACAGATGAGCAGCGGC	0.562000													9	5					0	0	0.004482	0	0
NTN1	9423	broad.mit.edu	37	17	8926345	8926345	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:8926345G>A	ENST00000173229.2	+	2	762	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	NTN1_ENST00000546090.1_Missense_Mutation_p.A219T|NTN1_ENST00000538852.1_Missense_Mutation_p.A219T	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	219	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGGCCTCATCGCCTTCAGCAC	0.701000													5	8					0	0	0.000602	0	0
CASKIN2	57513	broad.mit.edu	37	17	73503147	73503147	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:73503147C>T	ENST00000321617.3	-	5	894	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CASKIN2_ENST00000581870.1_Missense_Mutation_p.R103H|CASKIN2_ENST00000433559.2_Missense_Mutation_p.R21H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	103						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCAGAGGCGCGCAGCAGCAG	0.662000													8	20					0	0	0.003080	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150620960	150620960	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:150620960G>C	ENST00000271732.3	-	5	739	c.695C>G	c.(694-696)tCt>tGt	p.S232C	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S188C	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	232						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	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;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TAGCACATCAGAGGAGTGGGC	0.473000													23	77					0	0	0.003954	0	0
FZD7	8324	broad.mit.edu	37	2	202900750	202900750	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:202900750G>C	ENST00000286201.1	+	1	1441	c.1380G>C	c.(1378-1380)aaG>aaC	p.K460N		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	460					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGGCACCAAGACCGAGAAGC	0.592000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	35					0	0	0.008871	0	0
MROH7-TTC4	100527960	broad.mit.edu	37	1	55118945	55118945	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:55118945G>A	ENST00000414150.2	+	3	624	c.346G>A	c.(346-348)Gac>Aac	p.D116N	MROH7_ENST00000339553.5_Missense_Mutation_p.D116N|MROH7_ENST00000421030.2_Missense_Mutation_p.D116N|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.D116N																							CTCAAGGCCTGACTCACAGGG	0.572000													72	81					0	0	0.014410	0	0
VEZF1	7716	broad.mit.edu	37	17	56060115	56060115	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:56060115C>T	ENST00000584396.1	-	2	734	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	VEZF1_ENST00000581208.1_Missense_Mutation_p.E225K			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	225					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ATGCCTCCTTCATGAGACCTC	0.448000													16	100					0	0	0.004007	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718701	140718701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:140718701G>C	ENST00000394576.2	+	1	163	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	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)			CTTGGGTTTGGAGCCCCTGGC	0.617000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	42					0	0	0.010504	0	0
CDC27	996	broad.mit.edu	37	17	45199920	45199920	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:45199920G>A	ENST00000066544.3	-	18	2375	c.2282C>T	c.(2281-2283)tCt>tTt	p.S761F	CDC27_ENST00000527547.1_Missense_Mutation_p.S760F|CDC27_ENST00000531206.1_Missense_Mutation_p.S767F|CDC27_ENST00000446365.2_Missense_Mutation_p.S700F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	761					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CATAGCCCAAGAGAAATTCAT	0.383000													34	38					0	0	0.012213	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868175	39868175	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:39868175G>C	ENST00000314471.6	+	10	2190	c.1155G>C	c.(1153-1155)caG>caC	p.Q385H	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q385H	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	385							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCTGCAGCAGATCATCATCA	0.627000													49	72					0	0	0.014410	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882308	228882308	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:228882308C>G	ENST00000392056.3	-	7	3308	c.3262G>C	c.(3262-3264)Gag>Cag	p.E1088Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1088Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1088						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGTCTTCCTCAGGAATGCTT	0.632000													10	34					0	0	0.013537	0	0
TPPP3	51673	broad.mit.edu	37	16	67424463	67424463	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:67424463G>C	ENST00000564104.1	-	2	1102	c.261C>G	c.(259-261)ttC>ttG	p.F87L	TPPP3_ENST00000562206.1_Missense_Mutation_p.F87L|TPPP3_ENST00000290942.5_Missense_Mutation_p.F87L|TPPP3_ENST00000393957.2_Missense_Mutation_p.F87L			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	87					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCTTCCCCTTGAATCTCTTGG	0.582000													158	88					0	0	0.014410	0	0
RPL37	6167	broad.mit.edu	37	5	40834293	40834293	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:40834293G>A	ENST00000274242.5	-	3	363	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	RPL37_ENST00000509877.1_Intron|RPL37_ENST00000508493.1_Missense_Mutation_p.R72C|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	72					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				CTGAATCTGCGGTATACAATT	0.398000													12	71					0	0	0.013537	0	0
SIRPB2	284759	broad.mit.edu	37	20	1456880	1456880	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:1456880C>T	ENST00000359801.3	-	5	997	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SIRPB2_ENST00000444444.2_Missense_Mutation_p.E223K	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	321						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGACATCTTCTTGCCCAGGG	0.597000													65	139					0	0	0.014410	0	0
GMDS	2762	broad.mit.edu	37	6	1726704	1726704	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1726704C>G	ENST00000380815.4	-	9	1202	c.933G>C	c.(931-933)gaG>gaC	p.E311D	GMDS_ENST00000530927.1_Missense_Mutation_p.E281D	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	311					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTTTGCCGGTCTCTTTACATC	0.493000													19	95					0	0	0.014323	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111932947	111932947	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:111932947G>C	ENST00000375741.2	+	16	1961	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q	ARHGEF7_ENST00000478679.1_Missense_Mutation_p.E315Q|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.E468Q|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.E521Q|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.E478Q|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.E550Q	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	571	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGAATGGGTGGAGCACCTACA	0.498000													75	78					0	0	0.014410	0	0
COL14A1	7373	broad.mit.edu	37	8	121170472	121170472	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:121170472G>A	ENST00000297848.3	+	3	462	c.192G>A	c.(190-192)gtG>gtA	p.V64V	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V64V|COL14A1_ENST00000247781.3_Silent_p.V64V|COL14A1_ENST00000537875.1_Silent_p.V64V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	64	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTTCTTGTGACTCCAACTT	0.368000													8	42					0	0	0.004482	0	0
RNF111	54778	broad.mit.edu	37	15	59350741	59350741	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350741C>G	ENST00000348370.4	+	5	1791	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C	RNF111_ENST00000559209.1_Missense_Mutation_p.S453C|RNF111_ENST00000557998.1_Missense_Mutation_p.S453C|RNF111_ENST00000561186.1_Missense_Mutation_p.S453C|RNF111_ENST00000434298.1_Missense_Mutation_p.S453C	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	453	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACTGGCACTTCTATAGGAGGT	0.413000													118	78					0	0	0.014410	0	0
GAS2	2620	broad.mit.edu	37	11	22759311	22759311	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:22759311C>G	ENST00000454584.2	+	5	775	c.470C>G	c.(469-471)gCc>gGc	p.A157G	GAS2_ENST00000433790.1_Missense_Mutation_p.A157G|GAS2_ENST00000278187.3_Missense_Mutation_p.A157G	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	157					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CGGATTGCAGCCAGGTAGGTC	0.468000													12	52					0	0	0.013537	0	0
ZNF799	90576	broad.mit.edu	37	19	12501795	12501795	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:12501795C>G	ENST00000419318.1	-	4	2070	c.1321G>C	c.(1321-1323)Gag>Cag	p.E441Q	ZNF799_ENST00000430385.3_Missense_Mutation_p.E473Q|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TATGGCTTCTCTCCAGCATGA	0.383000													49	95					0	0	0.014410	0	0
AP1M1	8907	broad.mit.edu	37	19	16337279	16337279	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:16337279C>T	ENST00000291439.3	+	6	1043	c.594C>T	c.(592-594)atC>atT	p.I198I	AP1M1_ENST00000444449.2_Silent_p.I210I|AP1M1_ENST00000429941.2_Silent_p.I198I|AP1M1_ENST00000541844.1_Silent_p.I126I|AP1M1_ENST00000590756.1_Silent_p.I126I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	198	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TGGGCTCCATCAAGATGCGAG	0.652000													9	4					0	0	0.004482	0	0
CASP9	842	broad.mit.edu	37	1	15821948	15821948	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:15821948C>G	ENST00000546424.1	-	7	1113		c.e7-1		CASP9_ENST00000375890.4_Splice_Site|CASP9_ENST00000348549.5_Splice_Site|CASP9_ENST00000333868.5_Splice_Site			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase						activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TCTTTCTGCTCTGCAGGAAGC	0.488000													5	14					0	0	0.001168	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472591	70472591	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:70472591G>A	ENST00000373998.1	-	2	1212	c.515C>T	c.(514-516)tCc>tTc	p.S172F	ZMYM3_ENST00000353904.2_Missense_Mutation_p.S172F|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000373981.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S172F|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S172F	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	172					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCCCAGGGGAGCCCCTTCT	0.577000													25	7					0	0	0.006320	0	0
RPA3	6119	broad.mit.edu	37	7	7678736	7678736	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:7678736C>T	ENST00000223129.4	-	6	1310	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	RPA3_ENST00000401447.1_Missense_Mutation_p.E8K|RPA3_ENST00000406109.1_Missense_Mutation_p.E8K|RPA3_ENST00000396682.2_Missense_Mutation_p.E47K	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	47					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TTTTTTCCTTCTCCATCTGAA	0.299000								Direct reversal of damage;Nucleotide excision repair (NER)					7	39					0	0	0.004482	0	0
RYR1	6261	broad.mit.edu	37	19	38973699	38973699	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:38973699C>T	ENST00000355481.4	+	32	4784	c.4653C>T	c.(4651-4653)gtC>gtT	p.V1551V	RYR1_ENST00000360985.3_Silent_p.V1551V|RYR1_ENST00000359596.3_Silent_p.V1551V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1551	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCCTGCCGTCTTCGTCCTGC	0.587000													81	76					0	0	0.014410	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423781	33423781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:33423781C>T	ENST00000395064.2	+	2	1172	c.904C>T	c.(904-906)Cag>Tag	p.Q302*		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	302	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AAGCGGAACTCAGCCTGGAGG	0.547000													26	61					0	0	0.003954	0	0
IGSF9	57549	broad.mit.edu	37	1	159906269	159906269	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:159906269C>T	ENST00000368094.1	-	6	790	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	IGSF9_ENST00000361509.3_Missense_Mutation_p.R198Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	198	Ig-like 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGCTGCCTCGCTCTACCCG	0.657000											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	50					0	0	0.002780	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312307	99312307	+	Splice_Site	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:99312307T>C	ENST00000336374.2	-	8	673		c.e8-2			NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GAAAGACTTCTGTAGAAAAAA	0.303000													25	54					0	0	0.003954	0	0
AGL	178	broad.mit.edu	37	1	100387187	100387187	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:100387187G>C	ENST00000294724.4	+	34	5057	c.4579G>C	c.(4579-4581)Gag>Cag	p.E1527Q	AGL_ENST00000361915.3_Missense_Mutation_p.E1527Q|AGL_ENST00000361522.4_Missense_Mutation_p.E1510Q|AGL_ENST00000370163.3_Missense_Mutation_p.E1527Q|AGL_ENST00000361302.3_Missense_Mutation_p.E1511Q|AGL_ENST00000370165.3_Missense_Mutation_p.E1527Q|AGL_ENST00000370161.2_Missense_Mutation_p.E1511Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1527					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TACTATTCTTGAGACACTTTA	0.378000													9	42					0	0	0.006214	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097978	43097978	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:43097978C>T	ENST00000244336.5	-	2	240	c.139G>A	c.(139-141)Gag>Aag	p.E47K	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	47	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TCCTTCCCCTCTGCAGCATTG	0.537000													115	126					0	0	0.014410	0	0
RPRD1B	58490	broad.mit.edu	37	20	36662412	36662412	+	Silent	SNP	G	G	A	rs17853182		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:36662412G>A	ENST00000373433.4	+	1	465	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	21	CID.			Q -> H (in Ref. 5; AAH33629).						endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACTCTCAGCAGAGCGTGCAGA	0.642000													58	91					0	0	0.014410	0	0
ZC3H18	124245	broad.mit.edu	37	16	88677707	88677707	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:88677707G>A	ENST00000301011.5	+	8	1438	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R437K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	413						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagagaacagacagcgcgag	0.647000													22	6					0	0	0.010504	0	0
ALOXE3	59344	broad.mit.edu	37	17	8018956	8018956	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:8018956G>A	ENST00000380149.1	-	3	901	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	ALOXE3_ENST00000318227.3_Missense_Mutation_p.R267W|ALOXE3_ENST00000448843.2_Missense_Mutation_p.R135W			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	135	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CGGAGCTCCCGTGTCCTGTGA	0.473000													36	26					0	0	0.007835	0	0
NOX4	50507	broad.mit.edu	37	11	89106617	89106617	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:89106617A>G	ENST00000535633.1	-	12	1356	c.1046T>C	c.(1045-1047)aTa>aCa	p.I349T	NOX4_ENST00000542487.1_Missense_Mutation_p.I349T|NOX4_ENST00000534731.1_Missense_Mutation_p.I373T|NOX4_ENST00000528341.1_Missense_Mutation_p.I348T|NOX4_ENST00000343727.5_Missense_Mutation_p.I349T|NOX4_ENST00000527626.1_Missense_Mutation_p.I207T|NOX4_ENST00000375979.3_Missense_Mutation_p.I66T|NOX4_ENST00000424319.1_Missense_Mutation_p.I349T|NOX4_ENST00000527956.1_Missense_Mutation_p.I349T|NOX4_ENST00000413594.2_Missense_Mutation_p.I394T|NOX4_ENST00000532825.1_Missense_Mutation_p.I349T|NOX4_ENST00000263317.4_Missense_Mutation_p.I373T|NOX4_ENST00000531342.1_Missense_Mutation_p.I66T|NOX4_ENST00000525196.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	373	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTCTCCTACTATTTTAAGATG	0.264000													104	48					0	0	0.014410	0	0
SMYD4	114826	broad.mit.edu	37	17	1703353	1703353	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:1703353G>C	ENST00000305513.7	-	5	1502	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	445							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CAGAAACACAGAGAGCACAGA	0.453000													38	33					0	0	0.004289	0	0
KCNN3	3782	broad.mit.edu	37	1	154705586	154705586	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:154705586G>A	ENST00000271915.4	-	4	1798	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	KCNN3_ENST00000361147.4_Silent_p.L190L|KCNN3_ENST00000358505.2_Silent_p.L182L	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGGCACCCAGAAAGTTACTA	0.517000													15	53					0	0	0.003163	0	0
SYNC	81493	broad.mit.edu	37	1	33149943	33149943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33149943delC	ENST00000373484.3	-	3	1373	c.1274delG	c.(1273-1275)agafs	p.R425fs	SYNC_ENST00000409190.3_Frame_Shift_Del_p.R425fs|RBBP4_ENST00000373493.5_3'UTR	NM_001161708.1	NP_001155180	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	425	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACCCCATTTCTTAACTGCCT	0.443													33	112	---	---	---	---					
HERC5	51191	broad.mit.edu	37	4	89415386	89415386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:89415386delT	ENST00000264350.3	+	18	2501	c.2348delT	c.(2347-2349)gttfs	p.V783fs	HERC5_ENST00000508159.1_Frame_Shift_Del_p.V421fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	783	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AATTGCAATGTTGCCAACCTT	0.368													12	37	---	---	---	---					
FOXQ1	94234	broad.mit.edu	37	6	1313255	1313256	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1313255_1313256insGC	ENST00000296839.2	+	1	581_582	c.316_317insGC	c.(316-318)ggcfs	p.G106fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	106					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		cgcggggagcggcgagggtgCA	0.782													7	11	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148001	27148005	+	Frame_Shift_Del	DEL	ACGGG	ACGGG	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:27148001_27148005delACGGG	ENST00000396352.4	-	3	1060_1064	c.861_865delCCCGT	c.(859-867)gtcccgtatfs	p.PY288fs	HOXA3_ENST00000317201.2_Frame_Shift_Del_p.PY288fs|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	288					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P288Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGGGCTCATACGGGACGCTGTTGA	0.693													27	57	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70536366	70536366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:70536366delG	ENST00000260128.4	+	15	2501	c.1784delG	c.(1783-1785)aggfs	p.R595fs	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.R595fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.R595fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.R595fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	595					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGTGGCAACAGGGGCAGGATG	0.512													9	20	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445896	49445896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:49445896delC	ENST00000301067.7	-	10	1569	c.1570delG	c.(1570-1572)gaafs	p.E525fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTGACTCTTCCGGTGGAGAC	0.597													17	55	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53488655	53488655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:53488655delG	ENST00000262133.6	+	8	1217	c.1080delG	c.(1078-1080)gagfs	p.E361fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Frame_Shift_Del_p.E145fs	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	361					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGCTGAGGAGGAAATTGGGA	0.428													29	31	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													3	4	---	---	---	---					
SMYD4	114826	broad.mit.edu	37	17	1704320	1704321	+	Splice_Site	INS	-	-	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:1704320_1704321insC	ENST00000305513.7	-	5	537		c.e5-2			NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4								zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AAGACACGTCTGAAAACAGAAA	0.381													36	67	---	---	---	---					
NOP56	10528	broad.mit.edu	37	20	2635118	2635118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635118delG	ENST00000329276.5	+	4	783	c.267delG	c.(265-267)aagfs	p.K90fs		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	90					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCAAAAAGAAGAAAGTACTCT	0.537													45	72	---	---	---	---					
