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
CCDC178	374864	broad.mit.edu	37	18	30903498	30903498	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr18:30903498C>T	ENST00000383096.3	-	11	1161	c.979G>A	c.(979-981)Gat>Aat	p.D327N	CCDC178_ENST00000402325.1_Missense_Mutation_p.D327N|CCDC178_ENST00000579947.1_Missense_Mutation_p.D327N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D327N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.D327N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D327N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D327N					coiled-coil domain containing 178																		ATATCCTTATCAATCTCTTCT	0.323000													3	13					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835389	38835389	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr3:38835389C>A	ENST00000449082.2	-	1	112	c.113G>T	c.(112-114)aGa>aTa	p.R38I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	38					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATGCTTCTCTCTGGCTTTCTT	0.522000													16	29					0.000422831	0.000455357	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75865417	75865417	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr6:75865417A>G	ENST00000322507.8	-	16	3713	c.3404T>C	c.(3403-3405)gTt>gCt	p.V1135A	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1135A|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1135A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1135	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATAGGGTCCAACCACTAACTC	0.453000													3	80					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499103	52499103	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:52499103C>T	ENST00000371614.1	-	1	385	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	111							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ATCGGGCCGCCGGGCCGTACG	0.677000													11	48					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2050502	2050502	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr8:2050502G>T	ENST00000262113.4	+	21	2806	c.2665G>T	c.(2665-2667)Gca>Tca	p.A889S	MYOM2_ENST00000523438.1_Missense_Mutation_p.A314S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	889	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGGGTCCGGGCAGTCAATGC	0.502000													5	8					2.7689e-08	3.14307e-08	1	1	0
INSRR	3645	broad.mit.edu	37	1	156812204	156812204	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:156812204G>A	ENST00000368195.3	-	18	3619	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1075	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTCAGGCCGCAAAGATCGA	0.602000													21	79					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651937	84651937	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr15:84651937C>T	ENST00000286744.5	+	21	3781	c.3557C>T	c.(3556-3558)cCc>cTc	p.P1186L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1186L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1186	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.P1186L(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCAACCTCCCTCAATTTCA	0.413000													5	29					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039888	166039888	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:166039888C>A	ENST00000338353.3	-	3	965	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	FAM78B_ENST00000354422.3_Missense_Mutation_p.G126C			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	126										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTGGTGGGGCCAACCAGGGTC	0.537000													34	45					9.04072e-19	1.10061e-18	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107840675	107840675	+	Silent	SNP	T	T	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chrX:107840675T>G	ENST00000328300.6	+	24	1900	c.1656T>G	c.(1654-1656)acT>acG	p.T552T	COL4A5_ENST00000361603.2_Silent_p.T552T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	552	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.T552T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATATCCTCACTTTTCCAGGAA	0.512000									Alport syndrome with Diffuse Leiomyomatosis				7	50					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293441	113293441	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr8:113293441G>A	ENST00000297405.5	-	59	9714	c.9470C>T	c.(9469-9471)gCc>gTc	p.A3157V	CSMD3_ENST00000352409.3_Missense_Mutation_p.A3087V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3117V|CSMD3_ENST00000455883.2_Missense_Mutation_p.A2988V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3157	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTCCATTGGCTGTGCACTG	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	64					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581456	140581456	+	Missense_Mutation	SNP	C	C	G	rs142976572		TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr5:140581456C>G	ENST00000354757.3	+	1	2109	c.2109C>G	c.(2107-2109)ttC>ttG	p.F703L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.F338L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCCTCTTCTCGGTGCTCC	0.687000													14	82					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601149	138601149	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr6:138601149A>G	ENST00000251691.4	+	14	2475	c.2309A>G	c.(2308-2310)aAg>aGg	p.K770R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	770	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACTTCATGAAGCAGGTGCAG	0.552000													22	43					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10699179	10699179	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:10699179G>C	ENST00000377022.3	-	21	5417	c.5100C>G	c.(5098-5100)gaC>gaG	p.D1700E		NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1700	Asp-rich.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		cgtcgtcgtcgtcctcgtcgt	0.731000													2	2					0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44959810	44959810	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr11:44959810T>C	ENST00000533940.1	-	5	681	c.77A>G	c.(76-78)aAg>aGg	p.K26R	TP53I11_ENST00000395648.3_Missense_Mutation_p.K26R|TP53I11_ENST00000531928.2_Missense_Mutation_p.K26R|TP53I11_ENST00000525680.1_Missense_Mutation_p.K26R|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000308212.5_Missense_Mutation_p.K26R	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	26					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						GCCGAGGATCTTGCGGGTCTT	0.692000													5	22					0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36870061	36870061	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr6:36870061T>C	ENST00000480824.2	+	4	548	c.254T>C	c.(253-255)tTa>tCa	p.L85S	C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.L85S|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.L92S			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	85						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TTCAGCCCATTAGCACCTGAG	0.473000													17	40					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111399326	111399326	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr2:111399326T>A	ENST00000535254.1	-	20	2525	c.2458A>T	c.(2458-2460)Aga>Tga	p.R820*	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Nonsense_Mutation_p.R840*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.R840*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	840	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGCTTTAGTCTTTCCATCAAC	0.428000													22	76					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180377314	180377314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr3:180377314C>A	ENST00000273654.4	-	12	1535	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.E222*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	222					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTAATGAGTTCTTGTCTTTCA	0.353000													16	19					3.51602e-12	4.10202e-12	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18788726	18788726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr7:18788726C>T	ENST00000406451.3	+	14	2149	c.1999C>T	c.(1999-2001)Cga>Tga	p.R667*	HDAC9_ENST00000441542.2_Nonsense_Mutation_p.R670*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.R667*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.R626*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TATCTGGTCACGACTGCAAGA	0.438000													5	35					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113496656	113496656	+	Splice_Site	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr9:113496656G>T	ENST00000416899.2	+	6	879		c.e6+1		MUSK_ENST00000374448.4_Splice_Site|MUSK_ENST00000189978.5_Splice_Site			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CGGAAATGCTGTGAGTGTCAT	0.488000													4	90					1	1	1	1	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	7					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002640	132002640	+	Splice_Site	SNP	T	T	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr8:132002640T>G	ENST00000286355.5	-	2	3201	c.1110_splice	c.e2+1	p.Q370_splice	ADCY8_ENST00000377928.3_Splice_Site_p.Q370_splice	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	370					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTTGGTACCTGTCTTTGGTT	0.502000										HNSCC(32;0.087)			11	63					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237948062	237948062	+	Silent	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:237948062G>A	ENST00000366574.2	+	90	13367	c.13050G>A	c.(13048-13050)gaG>gaA	p.E4350E	RYR2_ENST00000360064.6_Silent_p.E4356E|RYR2_ENST00000542537.1_Silent_p.E4334E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4350					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGAGGGAGAGAGGAAACCCC	0.542000													6	43					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744124	17744124	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chrX:17744124A>C	ENST00000380060.3	+	6	2173	c.1835A>C	c.(1834-1836)aAc>aCc	p.N612T	NHS_ENST00000398097.3_Missense_Mutation_p.N456T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	612						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCCAGTGGCAACTGGAGTGGG	0.592000													9	95					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148549	34148549	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chrX:34148549C>G	ENST00000346193.3	-	1	1898	c.1847G>C	c.(1846-1848)gGa>gCa	p.G616A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	616										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCCAGGTCTCCAGCCCACTT	0.438000													4	36					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217383	26217383	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr6:26217383G>C	ENST00000303910.2	+	1	219	c.181G>C	c.(181-183)Gcc>Ccc	p.A61P		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	61					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ATATCTGACGGCCGAGATCTT	0.627000													9	36					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76869353	76869353	+	Missense_Mutation	SNP	G	G	T	rs144530847	by1000genomes	TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr11:76869353G>T	ENST00000409709.3	+	9	1152	c.880G>T	c.(880-882)Gac>Tac	p.D294Y	MYO7A_ENST00000409619.2_Missense_Mutation_p.D283Y|MYO7A_ENST00000458637.2_Missense_Mutation_p.D294Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.D294Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	294	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGCCGGGTGGACAGCCAGGA	0.617000													7	36					2.0095e-06	2.25064e-06	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7695291	7695291	+	Silent	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr17:7695291C>T	ENST00000572933.1	+	45	8417	c.6957C>T	c.(6955-6957)ttC>ttT	p.F2319F	DNAH2_ENST00000389173.2_Silent_p.F2319F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2319					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATTTGTGTTCAGCATGATCT	0.522000													27	93					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716613	153716613	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chrX:153716613G>A	ENST00000263512.4	-	2	1165	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	SLC10A3_ENST00000369649.4_Missense_Mutation_p.P194S|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P223S|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P278S	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	223					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGGCTGGGGGCTCTGCATG	0.562000													7	34					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501721	136501721	+	Silent	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr9:136501721C>A	ENST00000393056.2	+	1	240	c.228C>A	c.(226-228)ctC>ctA	p.L76L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	76	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.L76L(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	ATTTCCAGCTCCTGGTGCGGA	0.627000													7	14					5.4927e-09	6.32037e-09	1	1	0
VANGL2	57216	broad.mit.edu	37	1	160389273	160389273	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:160389273C>T	ENST00000368061.2	+	4	1148	c.674C>T	c.(673-675)gCc>gTc	p.A225V		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	225					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGACGCCCTTCTTTTC	0.652000													6	46					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387495	88387495	+	Silent	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr2:88387495G>A	ENST00000419482.2	+	3	514	c.429G>A	c.(427-429)gaG>gaA	p.E143E	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Silent_p.E143E	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	143	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGGAGGAGGAGCAGAAGGACC	0.617000													3	50					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45624599	45624599	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr14:45624599T>G	ENST00000267430.5	+	8	1418	c.1333T>G	c.(1333-1335)Tat>Gat	p.Y445D	FANCM_ENST00000556036.1_Missense_Mutation_p.Y445D|FANCM_ENST00000542564.2_Missense_Mutation_p.Y419D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	445					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAATTTGTTTATAGTCATCC	0.254000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	14					0	0	1	0	0
KLRB1	3820	broad.mit.edu	37	12	9760420	9760420	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr12:9760420T>C	ENST00000229402.3	-	1	62	c.16A>G	c.(16-18)Ata>Gta	p.I6V		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	6					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						TCAGCATATATTGCTTGTTGG	0.428000													3	24					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536565	37536565	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr20:37536565G>A	ENST00000299824.1	+	9	1204	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A297T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	339					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACCTCCAGCGCAGGCAGCCG	0.597000													4	28					0	0	1	0	0
RGS13	6003	broad.mit.edu	37	1	192627355	192627355	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:192627355A>G	ENST00000391995.2	+	6	440	c.152A>G	c.(151-153)tAt>tGt	p.Y51C	RGS13_ENST00000543215.1_Missense_Mutation_p.Y51C|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	51	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						TATGCAGCATATTTAAAAATG	0.358000													15	24					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966283	2966283	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr17:2966283A>C	ENST00000575751.1	-	1	618	c.619T>G	c.(619-621)Ttc>Gtc	p.F207V		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GGGGTGAGGAAGATGAAGCAG	0.483000													5	21					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29386745	29386745	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr2:29386745G>T	ENST00000320081.5	+	13	1838	c.1583G>T	c.(1582-1584)gGt>gTt	p.G528V	CLIP4_ENST00000404424.1_Missense_Mutation_p.G528V|CLIP4_ENST00000401617.2_Missense_Mutation_p.G421V|CLIP4_ENST00000401605.1_Missense_Mutation_p.G528V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	528	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAGAATGATGGTTCAGTTGGA	0.378000													27	30					2.68265e-12	3.17384e-12	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107838765	107838765	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chrX:107838765T>G	ENST00000328300.6	+	22	1694	c.1450T>G	c.(1450-1452)Tgc>Ggc	p.C484G	COL4A5_ENST00000361603.2_Missense_Mutation_p.C484G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	484	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTGCTTCAACTGCATTGGAAC	0.403000									Alport syndrome with Diffuse Leiomyomatosis				8	67					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209067	71209067	+	Splice_Site	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr14:71209067C>A	ENST00000554752.2	-	6	1567		c.e6+1		MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGGCCACTGACCAGAAGGGAG	0.607000													23	77					2.4375e-19	3.01103e-19	1	1	0
LTBP4	8425	broad.mit.edu	37	19	41128356	41128356	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr19:41128356G>T	ENST00000308370.7	+	27	3466	c.3466G>T	c.(3466-3468)Gcc>Tcc	p.A1156S	LTBP4_ENST00000396819.3_Missense_Mutation_p.A1089S|LTBP4_ENST00000204005.9_Missense_Mutation_p.A1119S|LTBP4_ENST00000545697.1_Missense_Mutation_p.A524S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1157	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGTTCTGCCCGCCAGGCCACC	0.711000													3	6					0.150653	0.152469	1	1	0
MIR450A2	574505	broad.mit.edu	37	X	133674538	133674538	+	RNA	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chrX:133674538C>A	ENST00000385022.1	-	0	99					NR_030227.1																						CCTCTTTTCCCCATATTATTG	0.343000													5	47					0.014758	0.0154959	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013371	73013371	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr4:73013371A>G	ENST00000308744.6	+	4	1509	c.1411A>G	c.(1411-1413)Agc>Ggc	p.S471G	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S372G|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S369G	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	471					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AAAAGCTAAAAGCCATGTGCT	0.433000													3	14					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140107026	140107026	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr9:140107026G>A	ENST00000371521.4	+	3	369	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	NDOR1_ENST00000344894.5_Missense_Mutation_p.G96S|NDOR1_ENST00000458322.2_Missense_Mutation_p.G96S|NDOR1_ENST00000427047.2_Missense_Mutation_p.G96S	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	96	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGCCGTCCTGGGCCTCGGGGA	0.587000													17	43					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62340055	62340055	+	Silent	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr20:62340055G>A	ENST00000328969.5	+	2	250	c.123G>A	c.(121-123)ggG>ggA	p.G41G	ZGPAT_ENST00000357119.4_Silent_p.G41G|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.G41G|ZGPAT_ENST00000369967.3_Silent_p.G41G|ZGPAT_ENST00000355969.6_Silent_p.G41G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	41					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGCTGCAGGGGGACCTGAAGG	0.687000													7	24					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111023	114111023	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr8:114111023A>C	ENST00000297405.5	-	5	1123	c.879T>G	c.(877-879)gaT>gaG	p.D293E	CSMD3_ENST00000352409.3_Missense_Mutation_p.D293E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D253E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D293E|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	293	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTAAGTAATCATATTTCT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	18					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7726790	7726790	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr17:7726790C>A	ENST00000572933.1	+	74	12633	c.11173C>A	c.(11173-11175)Cca>Aca	p.P3725T	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3725T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3725					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATGGACAATCCATGTAGTAG	0.483000													54	46					2.84776e-26	3.57032e-26	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134161561	134161561	+	Silent	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr10:134161561G>A	ENST00000392638.2	+	6	822	c.627G>A	c.(625-627)gcG>gcA	p.A209A	LRRC27_ENST00000344079.5_Silent_p.A209A|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368610.3_Silent_p.A147A|LRRC27_ENST00000368612.1_Silent_p.A147A|LRRC27_ENST00000432555.2_Silent_p.A82A|LRRC27_ENST00000368615.3_Silent_p.A209A|LRRC27_ENST00000368614.3_Silent_p.A209A|LRRC27_ENST00000368613.4_Silent_p.A209A			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	209										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAGACCACGCGTCTAACCAAG	0.567000													14	27					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62340076	62340076	+	Silent	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr20:62340076G>A	ENST00000328969.5	+	2	271	c.144G>A	c.(142-144)gaG>gaA	p.E48E	ZGPAT_ENST00000357119.4_Silent_p.E48E|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.E48E|ZGPAT_ENST00000369967.3_Silent_p.E48E|ZGPAT_ENST00000355969.6_Silent_p.E48E	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	48					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGCTCATCGAGCTCACCGAGG	0.667000													9	30					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176825247	176825247	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr5:176825247G>A	ENST00000324417.5	+	13	1971	c.1880G>A	c.(1879-1881)cGt>cAt	p.R627H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	627					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCCCCCCGTCTTGCACTG	0.692000													5	26					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988160	113988160	+	Silent	SNP	A	A	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr8:113988160A>G	ENST00000297405.5	-	7	1492	c.1248T>C	c.(1246-1248)tcT>tcC	p.S416S	CSMD3_ENST00000352409.3_Silent_p.S416S|CSMD3_ENST00000343508.3_Silent_p.S376S|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	416						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGATGAGGAGAGAGCCCGT	0.478000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	54					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80012838	80012838	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr17:80012838C>T	ENST00000392358.2	+	5	1143	c.794C>T	c.(793-795)cCa>cTa	p.P265L	GPS1_ENST00000578552.1_Missense_Mutation_p.P225L|GPS1_ENST00000320548.4_Missense_Mutation_p.P209L|GPS1_ENST00000355130.2_Missense_Mutation_p.P265L|GPS1_ENST00000306823.6_Missense_Mutation_p.P229L	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	229					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAGTCCACCCCAGAGATTGCC	0.642000													15	42					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135771795	135771795	+	Missense_Mutation	SNP	C	C	G	rs118203753		TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr9:135771795C>G	ENST00000298552.3	-	23	3543	c.3322G>C	c.(3322-3324)Ggc>Cgc	p.G1108R	TSC1_ENST00000440111.2_Missense_Mutation_p.G1108R|TSC1_ENST00000545250.1_Missense_Mutation_p.G1057R	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1108			G -> S.		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGGTCATGCCGTCCTCATCA	0.527000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				17	17					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997013	82997013	+	Silent	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr7:82997013C>T	ENST00000307792.3	-	17	2684	c.2217G>A	c.(2215-2217)agG>agA	p.R739R	SEMA3E_ENST00000427262.1_Silent_p.R679R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	739	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TAAGCTTTTTCCTCTTTCTAT	0.473000													14	68					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149225967	149225967	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr2:149225967C>G	ENST00000407073.1	+	9	1452	c.455C>G	c.(454-456)tCt>tGt	p.S152C	MBD5_ENST00000404807.1_Missense_Mutation_p.S152C	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	152						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGAAATAAGTCTCATGAAGGA	0.368000													8	12					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41139391	41139391	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr17:41139391A>G	ENST00000361677.1	+	2	629	c.617A>G	c.(616-618)tAt>tGt	p.Y206C		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	206										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		gagggcagttatgactcgctg	0.542000													6	23					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699661	169699661	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:169699661G>T	ENST00000333360.7	-	5	766	c.627C>A	c.(625-627)agC>agA	p.S209R	SELE_ENST00000367775.1_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.S209R|SELE_ENST00000367776.1_Missense_Mutation_p.S209R|SELE_ENST00000367774.1_Missense_Mutation_p.S209R|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.S209R|SELE_ENST00000367779.4_Missense_Mutation_p.S209R|SELE_ENST00000367782.4_Missense_Mutation_p.S209R	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	209	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCCTATCACAGCTGATAGAGC	0.512000													13	65					0.000308642	0.0003367	1	1	0
USF2	7392	broad.mit.edu	37	19	35760495	35760495	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr19:35760495C>G	ENST00000222305.3	+	3	158	c.121C>G	c.(121-123)Cca>Gca	p.P41A	USF2_ENST00000595068.1_Missense_Mutation_p.P41A|USF2_ENST00000343550.5_Missense_Mutation_p.P41A|USF2_ENST00000379134.3_Missense_Mutation_p.P41A|USF2_ENST00000594064.1_Missense_Mutation_p.P39A	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	41					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGGGGACGGCCCAGGAGCGGA	0.736000													8	4					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134873005	134873005	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr3:134873005G>A	ENST00000398015.3	+	6	1679	c.1309G>A	c.(1309-1311)Gtt>Att	p.V437I	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	437	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCCTCCACCGTTCCCATCAT	0.532000													92	153					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24569244	24569244	+	Silent	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr14:24569244G>T	ENST00000545054.2	+	7	1572	c.654G>T	c.(652-654)ggG>ggT	p.G218G	PCK2_ENST00000561286.1_Silent_p.G218G|PCK2_ENST00000216780.4_Silent_p.G352G|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.G352G|PCK2_ENST00000559250.1_Silent_p.G364G|PCK2_ENST00000558096.1_Silent_p.G218G			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	352					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCTTCTTTGGGGTTGCCCCTG	0.507000													4	75					0.0293803	0.0304685	1	1	0
RP1	6101	broad.mit.edu	37	8	55538646	55538646	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr8:55538646A>T	ENST00000220676.1	+	4	2352	c.2204A>T	c.(2203-2205)gAt>gTt	p.D735V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	735					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGAAAAGTGATACTGTAATT	0.318000													5	24					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	686377	686377	+	Silent	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr17:686377C>T	ENST00000304478.4	+	2	475	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	123					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AAGGGAAGATCCTGCTGGAAG	0.428000													4	33					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134977882	134977882	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr3:134977882G>T	ENST00000398015.3	+	16	3245	c.2875G>T	c.(2875-2877)Gca>Tca	p.A959S	EPHB1_ENST00000493838.1_Missense_Mutation_p.A520S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	959	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATCACCTTGGCAGGCCATCA	0.453000													7	11					2.17888e-05	2.40823e-05	1	1	0
OR5B2	390190	broad.mit.edu	37	11	58190560	58190560	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr11:58190560A>C	ENST00000302581.2	-	1	226	c.175T>G	c.(175-177)Ttt>Gtt	p.F59V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGAGGAAAAAGTACATGGGG	0.498000													12	49					0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68491555	68491555	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr5:68491555A>T	ENST00000283006.2	+	4	338	c.251A>T	c.(250-252)gAc>gTc	p.D84V	CENPH_ENST00000515001.1_Missense_Mutation_p.D84V	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	84					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAATTGAAGACCTGGAAAAT	0.264000													8	10					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23064923	23064923	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr20:23064923T>C	ENST00000246006.4	-	1	2054	c.1907A>G	c.(1906-1908)gAg>gGg	p.E636G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	636					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCCTGCTCTCAGCTCGCTC	0.592000													13	79					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35780974	35780974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr3:35780974G>T	ENST00000187397.4	+	17	2266	c.1810G>T	c.(1810-1812)Gga>Tga	p.G604*	ARPP21_ENST00000417925.1_Nonsense_Mutation_p.G605*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.G585*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.G585*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.G605*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	604	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTTCCTACAGGAGGATTCTC	0.617000													9	12					1.11149e-13	1.33379e-13	1	1	0
NOS1	4842	broad.mit.edu	37	12	117768586	117768586	+	Silent	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr12:117768586G>A	ENST00000317775.6	-	2	974	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	NOS1_ENST00000344089.3_Silent_p.L97L|NOS1_ENST00000338101.4_Silent_p.L97L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	97	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGCCCCTCAGAATGAGGACC	0.622000													7	11					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121691675	121691675	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr10:121691675C>G	ENST00000369075.3	+	16	2675	c.2603C>G	c.(2602-2604)tCt>tGt	p.S868C	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.S657C	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	868	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CGTATGGGATCTGATTTGAAG	0.388000													7	45					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040257	107040257	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr2:107040257T>C	ENST00000409886.3	-	20	4253	c.4166A>G	c.(4165-4167)gAt>gGt	p.D1389G	RGPD3_ENST00000304514.7_Missense_Mutation_p.D1389G	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1389	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTGCTTATTATCATAATTCTG	0.353000													69	100					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283414	152283414	+	Silent	SNP	T	T	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:152283414T>C	ENST00000368799.1	-	3	3983	c.3948A>G	c.(3946-3948)agA>agG	p.R1316R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1316	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)			CGTGACTGGCTCTGTCTTCTT	0.542000									Ichthyosis				119	220					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45133262	45133262	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr20:45133262C>T	ENST00000457685.2	-	4	1348	c.25G>A	c.(25-27)Gtc>Atc	p.V9I	ZNF334_ENST00000593880.1_Missense_Mutation_p.G52D|ZNF334_ENST00000347606.4_Missense_Mutation_p.V47I			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CCCACAGAGACCAAGTTGCTG	0.458000													10	53					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233221	21233221	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr2:21233221T>G	ENST00000233242.1	-	26	6646	c.6519A>C	c.(6517-6519)caA>caC	p.Q2173H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2173	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTCTGCAGTTGAGATAGTT	0.259000													3	13					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760573	186760573	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr3:186760573G>A	ENST00000169298.3	+	4	756	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.E28K|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	28					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGTGTGGAAGGAAAAGAAGAA	0.433000													31	43					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124824765	124824765	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr8:124824765G>C	ENST00000334705.7	+	24	2584	c.2338G>C	c.(2338-2340)Gct>Cct	p.A780P		NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	780										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTAGGAAGGTGCTTCAATATT	0.363000													23	36					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697421	156697421	+	Silent	SNP	C	C	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:156697421C>G	ENST00000313146.6	-	1	806	c.24G>C	c.(22-24)ctG>ctC	p.L8L	ISG20L2_ENST00000368219.1_Silent_p.L8L	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	8					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAAAATCCAGATTGAGCA	0.468000													39	55					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114803908	114803908	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr12:114803908C>G	ENST00000526441.1	-	7	1043	c.1044G>C	c.(1042-1044)tgG>tgC	p.W348C	TBX5_ENST00000310346.4_Intron|TBX5_ENST00000405440.2_Intron|TBX5_ENST00000349716.5_Intron			Q99593	TBX5_HUMAN	T-box 5	0					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCCCTCACCCCCAACCCAAGG	0.358000													7	28					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12680707	12680707	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr18:12680707C>T	ENST00000262127.2	-	9	1468	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.G340R	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	415					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCATCAGTTCCACAAGTCATA	0.378000													37	50					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259720	44259720	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr7:44259720C>A	ENST00000395749.2	-	23	2018	c.1942G>T	c.(1942-1944)Ggc>Tgc	p.G648C	CAMK2B_ENST00000358707.3_Missense_Mutation_p.G485C|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G461C|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G524C|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G474C|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G499C|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000457475.1_Missense_Mutation_p.G500C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G524C|CAMK2B_ENST00000395747.2_Missense_Mutation_p.G500C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G431C	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	648					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGCCACTTGCCGTCGCGGCGG	0.672000													8	9					0.000673444	0.000716067	1	1	0
EP400	57634	broad.mit.edu	37	12	132537941	132537941	+	Silent	SNP	G	G	C			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr12:132537941G>C	ENST00000333577.4	+	44	7744	c.7635G>C	c.(7633-7635)ccG>ccC	p.P2545P	EP400_ENST00000389561.2_Silent_p.P2509P|EP400_ENST00000332482.4_Silent_p.P2472P|EP400_ENST00000389562.2_Silent_p.P2508P|EP400_ENST00000330386.6_Silent_p.P2428P			Q96L91	EP400_HUMAN	E1A binding protein p400	2545	Interaction with ZNF42 (By similarity).|Poly-Pro.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		Agccacccccgccccagccgc	0.736000													2	2					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184598	69184598	+	Silent	SNP	G	G	A			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr16:69184598G>A	ENST00000563094.1	+	7	931	c.897G>A	c.(895-897)gcG>gcA	p.A299A	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Silent_p.A299A|CIRH1A_ENST00000314423.7_Silent_p.A299A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	299						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCCAACAGCGCTGATATCTG	0.552000											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39376765	39376765	+	Silent	SNP	C	C	T			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr5:39376765C>T	ENST00000320816.6	-	12	2591	c.2124G>A	c.(2122-2124)ttG>ttA	p.L708L	DAB2_ENST00000509337.1_Silent_p.L687L|DAB2_ENST00000339788.6_Silent_p.L490L|DAB2_ENST00000545653.1_Silent_p.L687L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	708	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGATCTTGTTCAATAGTTGAT	0.453000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	86					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207739269	207739272	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr1:207739269_207739272delGTGA	ENST00000367049.4	+	24	3952		c.e24+1		CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGTGTGAACGTGAGTAATAGGAG	0.397													8	90	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			8	104	---	---	---	---					
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373	by1000genomes	TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc	p.987_988TG>TLPPPHG	PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	987	Ser/Thr-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48919226	48919229	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr13:48919226_48919229delTTCT	ENST00000267163.4	+	4	529_532	c.391_394delTTCT	c.(391-396)ttfs	p.FF131fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	131					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCCATAAATTCTTTAACTTACT	0.275		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			17	8	---	---	---	---					
ZSCAN30	100101467	broad.mit.edu	37	18	32843477	32843478	+	Splice_Site	DEL	CT	CT	-			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr18:32843477_32843478delCT	ENST00000420878.3	-	4	1007_1008	c.553_splice	c.e4+1	p.RD184_splice	ZSCAN30_ENST00000333206.5_Splice_Site_p.RD184_splice|ZSCAN30_ENST00000589178.1_Splice_Site_p.RD184_splice|ZSCAN30_ENST00000601405.1_3'UTR|ZSCAN30_ENST00000383091.2_Splice_Site_p.RD184_splice|ZNF397_ENST00000589420.1_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	184					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						GGCTTCTCACCTCTCTCCTGGA	0.535													21	59	---	---	---	---					
CBR3-AS1	100506428	broad.mit.edu	37	21	37518894	37518894	+	RNA	DEL	T	T	-			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chr21:37518894delT	ENST00000413862.1	-	0	79				CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NR_038892.1																						atttctgttcttttttttttt	0.448													2	4	---	---	---	---					
RP3-368A4.5	0	broad.mit.edu	37	X	73423614	73423614	+	RNA	DEL	A	A	-			TCGA-86-8074-01A-11D-2238-08	TCGA-86-8074-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699460ce-e908-4d17-8425-b7fca3bfbeb9	4b4655c7-8e74-41e5-addb-112ad0689559	g.chrX:73423614delA	ENST00000603037.1	-	0	346																											CTCATCTACCAAAAACCTGGC	0.493													2	4	---	---	---	---					
