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
RANBP9	10048	broad.mit.edu	37	6	13642747	13642747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:13642747C>T	ENST00000011619.3	-	7	1247	c.1189G>A	c.(1189-1191)Gtt>Att	p.V397I	RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	397	LisH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTTCTAGAACGGTCTGGTCT	0.363000													15	32					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													5	120					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49636260	49636260	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:49636260G>A	ENST00000334186.4	+	8	1231	c.882G>A	c.(880-882)gcG>gcA	p.A294A	PPFIA3_ENST00000602351.1_Silent_p.A294A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	294						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCCGCAGGCGCTGGCGCAGC	0.647000													4	22					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234092	61234092	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:61234092G>A	ENST00000382768.1	+	7	1126	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	SERPINB12_ENST00000269491.1_Missense_Mutation_p.G356S			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	356					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGATGAAAACGGTACCCAGGC	0.458000													11	33					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171640	22171640	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:22171640C>T	ENST00000397126.4	-	2	223	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000601773.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAAATTCTGCTGTGCAGTGT	0.398000													8	243					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330260	125330260	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:125330260C>T	ENST00000304865.2	-	1	578	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498000													11	38					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479071	32479071	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGGGCCTGGCGGCGGTGATTT	0.572000													15	6					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551726	248551726	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:248551726G>T	ENST00000355728.2	+	1	817	c.817G>T	c.(817-819)Gtc>Ttc	p.V273F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAAGATAAGGTCTTCTCTGC	0.473000													18	39					2.94398e-08	3.10754e-08	1	1	0
ADI1	55256	broad.mit.edu	37	2	3517685	3517685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:3517685G>T	ENST00000382093.5	-	2	3002	c.165C>A	c.(163-165)taC>taA	p.Y55*	ADI1_ENST00000327435.6_Nonsense_Mutation_p.Y61*			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	61					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCATCCAGGAGTAGTTCCTCT	0.373000													6	42					0.217242	0.217242	1	1	0
USP26	83844	broad.mit.edu	37	X	132162098	132162098	+	Missense_Mutation	SNP	G	G	A	rs146792106	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:132162098G>A	ENST00000511190.1	-	6	620	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	USP26_ENST00000370832.1_Missense_Mutation_p.R51W|USP26_ENST00000406273.1_Missense_Mutation_p.R51W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	51					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCACTTAGCCGAAAAGTGCTA	0.318000													7	28					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192251949	192251949	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:192251949G>A	ENST00000392318.3	+	17	1801		c.e17-1		MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCTGCTTATAGGTGCTGTACC	0.443000													16	35					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060262	54060262	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:54060262C>T	ENST00000312233.2	-	3	880	c.314G>A	c.(313-315)cGg>cAg	p.R105Q		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGGGGGCTCCGGAGTCCATT	0.662000													5	52					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	944779	944779	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:944779C>G	ENST00000265846.5	-	5	638	c.419G>C	c.(418-420)gGc>gCc	p.G140A	ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000463358.1_5'UTR	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	140	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTTGTCCCGGCCACGCTTCCA	0.552000													13	88					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056400	180056400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:180056400G>A	ENST00000261937.6	-	7	922	c.844C>T	c.(844-846)Cga>Tga	p.R282*	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	282	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGAGCGTCGCTCGGGCACC	0.662000													11	69					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526068	7526068	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:7526068C>T	ENST00000313599.3	-	14	3635	c.3578G>A	c.(3577-3579)aGc>aAc	p.S1193N	CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1193	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGGGCGAGGCTGACAACTCC	0.552000													27	90					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35641873	35641873	+	Splice_Site	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:35641873T>C	ENST00000353139.5	-	4	820		c.e4-2		ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000335166.5_Splice_Site	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGCTGGACCTATAAAAATAC	0.418000													11	62					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343448	130343448	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:130343448G>A	ENST00000299164.2	+	8	2585	c.2585G>A	c.(2584-2586)cGg>cAg	p.R862Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	862	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTGCAGAAGCGGGCGGTGGAC	0.746000													19	25					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18309134	18309134	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:18309134C>T	ENST00000396253.3	-	17	2785	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E889K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	889						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCAAAAACTCAGCAGGATGA	0.428000									Hermansky-Pudlak syndrome				15	46					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	149					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37266498	37266498	+	Silent	SNP	C	C	T	rs144105468		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:37266498C>T	ENST00000397147.4	+	5	568	c.384C>T	c.(382-384)gaC>gaT	p.D128D	NCF4_ENST00000248899.6_Silent_p.D128D	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	128	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGGATGAGGACGTCCGGATCT	0.622000													50	19					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842045	8842045	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:8842045G>A	ENST00000324060.2	+	1	730	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCTCCTACGGCCACGTGTT	0.582000													25	79					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037228	105037228	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr10:105037228A>G	ENST00000369849.4	+	1	309	c.260A>G	c.(259-261)tAc>tGc	p.Y87C		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	87	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAACGAGTACAAGATCATC	0.682000													4	10					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587000													8	13					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233160996	233160996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:233160996G>A	ENST00000258229.8	-	26	4735	c.4501C>T	c.(4501-4503)Cag>Tag	p.Q1501*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1501						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGGGTCTGCGTGATTTCC	0.592000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	124					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30854163	30854163	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:30854163A>T	ENST00000339382.2	-	2	1847	c.915T>A	c.(913-915)tgT>tgA	p.C305*		NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	0						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCTTGATTTGACAACAGTGAA	0.338000													14	46					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48197800	48197800	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:48197800C>T	ENST00000396720.3	+	8	2906	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	904							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CTACGCCATCCGACTTCCAGC	0.701000													31	43					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455562	50455562	+	Missense_Mutation	SNP	C	C	T	rs140702198	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:50455562C>T	ENST00000447370.2	-	9	1831	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	581					cell adhesion	integral to membrane	sugar binding	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622000													14	118					0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132874647	132874647	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:132874647G>A	ENST00000275200.1	+	1	816	c.816G>A	c.(814-816)ccG>ccA	p.P272P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	272						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CATGGTTACCGTATACAGTTG	0.413000													4	105					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838610	43838610	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr21:43838610C>A	ENST00000319294.6	+	7	969	c.938C>A	c.(937-939)gCc>gAc	p.A313D	UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D|UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	313	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAGGACGAAGCCAGCGAGGGC	0.597000													9	57					1.12685e-05	1.1636e-05	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159284152	159284152	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:159284152T>A	ENST00000332217.5	-	1	297	c.298A>T	c.(298-300)Act>Tct	p.T100S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGAGCTGAGTGGCACAGCTT	0.507000													24	53					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12977470	12977470	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:12977470G>T	ENST00000251472.4	+	18	2072	c.2033G>T	c.(2032-2034)cGc>cTc	p.R678L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	678	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCCAGCCCGCTCAGACAGG	0.592000													14	18					1.05317e-09	1.12417e-09	1	1	0
LGI3	203190	broad.mit.edu	37	8	22006354	22006354	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:22006354G>A	ENST00000306317.2	-	8	1255	c.966C>T	c.(964-966)gaC>gaT	p.D322D	LGI3_ENST00000424267.2_Silent_p.D298D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	322					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGCGCTGCGGGTCAATGTCTT	0.612000													16	16					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931121	42931121	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:42931121G>C	ENST00000244289.4	-	1	457	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	61					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGGTCTCCTGCTGGGTGAGG	0.527000													5	188					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53596200	53596200	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:53596200G>A	ENST00000025008.5	-	5	801	c.278C>T	c.(277-279)tCg>tTg	p.S93L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	93					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTTTCTGTCGAAAAGGTAGT	0.323000													8	31					0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603421	5603421	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:5603421G>A	ENST00000423158.3	+	2	292	c.80G>A	c.(79-81)cGt>cAt	p.R27H	NTF3_ENST00000331010.6_Missense_Mutation_p.R14H|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	14					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GCTTATCTCCGTGGCATCCAA	0.418000													5	72					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100963794	100963794	+	Silent	SNP	C	C	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:100963794C>A	ENST00000375066.5	-	11	2515	c.2424G>T	c.(2422-2424)cgG>cgT	p.R808R	TBC1D2_ENST00000375063.1_Silent_p.R348R|TBC1D2_ENST00000375064.1_Silent_p.R808R|TBC1D2_ENST00000342112.5_Silent_p.R590R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	808	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CATCCCAGACCCGAAGGAGGA	0.607000													5	23					0.000602214	0.000615165	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11452289	11452289	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:11452289C>T	ENST00000423059.3	-	18	3927	c.3676G>A	c.(3676-3678)Gta>Ata	p.V1226I	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1226	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACCTGTTACATTATAATCA	0.423000										HNSCC(18;0.044)			3	32					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919312	130919312	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:130919312G>A	ENST00000261655.4	-	11	2332	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	RIMBP2_ENST00000536002.1_Silent_p.D631D|RIMBP2_ENST00000535703.1_Silent_p.D631D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	723						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGGAAGTCGTCCACCGAGG	0.667000													20	119					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388000													5	338					0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113819403	113819403	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr13:113819403G>A	ENST00000342783.4	+	7	615	c.608G>A	c.(607-609)cGt>cAt	p.R203H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.R181H|RP11-98F14.11_ENST00000600642.1_RNA	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	181	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCTGAGAAGCGTGCACCGGAT	0.507000													5	31					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238591	57238591	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr16:57238591C>T	ENST00000537866.1	+	2	894	c.21C>T	c.(19-21)gcC>gcT	p.A7A	RSPRY1_ENST00000394420.4_Silent_p.A7A			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	7						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTGGTTGGGCCGTGTTCTTAG	0.463000													36	189					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959167	27959167	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:27959167C>T	ENST00000269033.3	-	15	3115	c.2964G>A	c.(2962-2964)agG>agA	p.R988R	SSH2_ENST00000540801.1_Silent_p.R1015R|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	988					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATCACAGTCCTCAGATCCT	0.517000													8	28					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228437713	228437713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:228437713C>T	ENST00000570156.2	+	15	4431	c.4357C>T	c.(4357-4359)Cag>Tag	p.Q1453*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	431	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAAGGTGCAGGCCGAGGC	0.637000													4	85					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24307151	24307151	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:24307151A>G	ENST00000238721.4	-	1	900	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	16					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTCACGTAGAGGTTTTCC	0.642000											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	23					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033760	52033760	+	Missense_Mutation	SNP	G	G	A	rs148934624	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:52033760G>A	ENST00000359982.4	-	4	863	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000425629.3_Intron	NM_001177548.1	NP_001171019.1	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	236	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGTGGCCGCCTCAACATC	0.582000													4	47					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65473766	65473766	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:65473766G>A	ENST00000260641.5	+	3	425	c.268G>A	c.(268-270)Gac>Aac	p.D90N	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N|ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	90					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ACACCTGTGGGACTACACATT	0.383000													25	107					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7585112	7585112	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:7585112C>T	ENST00000597229.1	+	2	1154	c.984C>T	c.(982-984)ttC>ttT	p.F328F	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.F328F	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	328					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GCAAAGCCTTCGGGCAGAGCT	0.701000													79	73					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178030707	178030707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:178030707G>A	ENST00000316308.4	-	13	1525	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	453	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		AACATTCTTCGAACCAGGTCA	0.318000													14	34					0	0	1	0	0
CTD-2139B15.2	0	broad.mit.edu	37	5	17354535	17354535	+	RNA	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:17354535C>T	ENST00000511821.1	+	0	394				FTH1P10_ENST00000401830.3_RNA																							GTCGTCATGGCGGCGACTAAG	0.682000													3	25					0	0	1	0	0
CSF2	1437	broad.mit.edu	37	5	131409549	131409549	+	Silent	SNP	T	T	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:131409549T>G	ENST00000296871.2	+	1	67	c.33T>G	c.(31-33)acT>acG	p.T11T		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	11					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCTTGGGCACTGTGGCCTGCA	0.602000													11	79					0	0	1	0	0
GRM3	0	broad.mit.edu	37	7	86469169	86469169	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:86469169T>C	ENST00000361669.2	+	4	3438	c.2339T>C	c.(2338-2340)aTc>aCc	p.I780T	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	780					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCACGTGCATCATCTGGTTG	0.413000													5	135					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060649	35060649	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:35060649G>A	ENST00000373913.3	+	3	1009	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	DLGAP4_ENST00000373907.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	177					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATGGAGGACGGCAAGGGCCG	0.642000													6	88					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7900165	7900165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:7900165G>A	ENST00000264668.2	+	15	2202	c.2172G>A	c.(2170-2172)tgG>tgA	p.W724*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	724					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGGATATTTGGTCATAAAACC	0.323000													6	111					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50480124	50480124	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:50480124C>T	ENST00000266182.6	-	7	755	c.756G>A	c.(754-756)acG>acA	p.T252T	TTLL8_ENST00000440475.1_Silent_p.T252T					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CATCTGCTGACGTGTCGATGT	0.632000													9	6					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35463135	35463135	+	Silent	SNP	G	G	A	rs150252565		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:35463135G>A	ENST00000378880.2	-	7	1372	c.927C>T	c.(925-927)acC>acT	p.T309T	PAMR1_ENST00000378878.3_Silent_p.T198T|PAMR1_ENST00000278360.3_Silent_p.T326T|PAMR1_ENST00000532848.1_Silent_p.T269T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	309	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AAGACACCACGGTGCCAATTT	0.493000													19	83					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374051	140374051	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:140374051C>T	ENST00000072869.4	+	1	1099	c.921C>T	c.(919-921)tcC>tcT	p.S307S	ADCK2_ENST00000476491.1_Silent_p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034).			integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACCTCATCTCCGTGGCAGTGA	0.552000													11	80					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566788	4566788	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:4566788A>C	ENST00000360213.1	+	1	368	c.368A>C	c.(367-369)gAt>gCt	p.D123A		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCTTTTGATCGCTACGTG	0.537000													29	29					0	0	1	0	0
CWC15	51503	broad.mit.edu	37	11	94704160	94704160	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:94704160G>C	ENST00000279839.6	-	4	436	c.314C>G	c.(313-315)gCa>gGa	p.A105G	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	105					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGTCATCTGCATCAAGGTT	0.378000													11	135					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080741	5080741	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:5080741G>A	ENST00000321522.2	-	1	116	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGAGTGCGATCATGTACA	0.512000													5	30					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28259949	28259949	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:28259949C>T	ENST00000354638.3	-	9	1172	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	OCA2_ENST00000382996.2_Silent_p.A339A|OCA2_ENST00000353809.5_Silent_p.A339A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	339					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGTAGACGCCCGCGAGGATGG	0.587000									Oculocutaneous Albinism				14	30					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	rs139377821	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453000													18	65					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654989	19654989	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:19654989C>T	ENST00000586018.1	+	8	1755	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	CILP2_ENST00000291495.4_Silent_p.A545A			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	545						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCGAGGTGCCGGCGTGTACC	0.612000													18	91					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008525	88008525	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:88008525A>C	ENST00000276127.4	+	3	369	c.110A>C	c.(109-111)gAt>gCt	p.D37A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	37						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCATCTGCTGATCCCAATATG	0.443000													9	5					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143984	11143984	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:11143984C>G	ENST00000358026.2	+	26	3849	c.3565C>G	c.(3565-3567)Cga>Gga	p.R1189G	SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCGCAGGACCGAGCCCACCG	0.612000			"""F, N, Mis"""		NSCLC								4	88					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	148					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67817253	67817253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:67817253C>T	ENST00000255674.6	-	16	2412	c.2126G>A	c.(2125-2127)tGg>tAg	p.W709*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	709							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAACTTGTTCCAGGTCAATGC	0.428000													6	47					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212652796	212652796	+	Silent	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:212652796T>C	ENST00000342788.4	-	4	820	c.510A>G	c.(508-510)ccA>ccG	p.P170P	ERBB4_ENST00000436443.1_Silent_p.P170P|ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	170					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGAAGGCCATGGGTTCCGAA	0.363000										TSP Lung(8;0.080)			26	26					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4798523	4798523	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4798523G>A	ENST00000355280.6	+	25	3267	c.3071G>A	c.(3070-3072)tGt>tAt	p.C1024Y	MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y|MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1024	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GAGATCCTCTGTGCAGCCCTT	0.597000													13	38					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159566103	159566103	+	Silent	SNP	T	T	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:159566103T>G	ENST00000307765.5	+	15	1409	c.1158T>G	c.(1156-1158)gtT>gtG	p.V386V	RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000343542.5_Silent_p.V338V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	386						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CACCACATGTTCGCAGCTGTA	0.368000													6	18					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		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)		agcagcaacaacagcagcagc	0.567000													3	62					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51656142	51656142	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:51656142G>A	ENST00000371117.3	-	53	8607	c.8332C>T	c.(8332-8334)Cca>Tca	p.P2778S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2778	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGAAGAATGGAAGATCTGTA	0.453000													14	25					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937616	4937616	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4937616C>T	ENST00000512825.2	-	3	1579	c.168G>A	c.(166-168)gcG>gcA	p.A56A	SLC52A1_ENST00000424747.1_Silent_p.A56A|SLC52A1_ENST00000254853.5_Silent_p.A56A			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	56						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGTTTCCCAGCGCCACAACCA	0.617000													9	72					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601935	135601935	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:135601935C>T	ENST00000513104.1	-	5	1600	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	440					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGCATTTCTGTCCAGGAG	0.378000													15	191					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562000													4	60					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626567	49626567	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:49626567G>A	ENST00000371571.4	-	2	594	c.309C>T	c.(307-309)aaC>aaT	p.N103N	KCNG1_ENST00000396017.3_Silent_p.N103N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	103						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATCGCACACGTTGAGGATGT	0.637000													10	63					0	0	1	0	0
KLRB1	3820	broad.mit.edu	37	12	9760369	9760369	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:9760369G>T	ENST00000229402.3	-	1	113	c.67C>A	c.(67-69)Cct>Act	p.P23T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	23					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						AGAGATGAAGGTGAAGAACTT	0.413000													8	65					3.09899e-07	3.2352e-07	1	1	0
GRM8	0	broad.mit.edu	37	7	126173225	126173225	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:126173225C>T	ENST00000339582.2	-	9	3019	c.2211G>A	c.(2209-2211)agG>agA	p.R737R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R737R|GRM8_ENST00000358373.3_Silent_p.R737R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	737					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGAGCACTCCCCTGGCCTTCT	0.473000										HNSCC(24;0.065)			8	37					0	0	1	0	0
SBP1	0	broad.mit.edu	37	6	33663364	33663364	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:33663364C>T	ENST00000594414.1	-	1	110	c.111G>A	c.(109-111)gcG>gcA	p.A37A	ITPR3_ENST00000374316.5_Intron|ITPR3_ENST00000605930.1_Intron																							GGCCCTGGCCCGCCGCCAGTG	0.612000													5	19					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500615	142500615	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:142500615C>T	ENST00000378004.3	+	18	1956	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P534L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	534	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTTTGGACCCACTCTGCTG	0.438000													18	152					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113461096	113461096	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:113461096C>G	ENST00000505019.1	-	27	6220	c.6095G>C	c.(6094-6096)aGg>aCg	p.R2032T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAACAAATGCCTCTTTCCTCT	0.368000													21	30					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79310181	79310181	+	Silent	SNP	C	C	T	rs146264269	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:79310181C>T	ENST00000419573.3	-	12	1948	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P558P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	558	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.P558P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTAAAGGGCGGGGAATCCT	0.512000													27	49					0	0	1	0	0
SGK223	0	broad.mit.edu	37	8	8175831	8175831	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:8175831C>T	ENST00000520004.1	-	6	4318	c.4054G>A	c.(4054-4056)Gac>Aac	p.D1352N	SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N			Q86YV5	SG223_HUMAN		1352							ATP binding|non-membrane spanning protein tyrosine kinase activity										CGCTTCATGTCGATCCAGTTG	0.677000													70	84					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395583	154395583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:154395583C>T	ENST00000435029.4	+	1	2324	c.2164C>T	c.(2164-2166)Cga>Tga	p.R722*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	722	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAGAAACAACGAGAGGTCAC	0.468000													4	90					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72843053	72843053	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:72843053G>A	ENST00000293190.5	-	10	2154	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	670					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TCTTGAGGCCGCTGAAACTGC	0.627000													4	90					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7700732	7700732	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:7700732G>A	ENST00000572933.1	+	52	9424	c.7964G>A	c.(7963-7965)cGg>cAg	p.R2655Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2655					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)				TTCTCTGACCGGCTGGTTGAT	0.547000													5	152					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39506828	39506828	+	Silent	SNP	G	G	A	rs144512034	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:39506828G>A	ENST00000007735.3	-	1	236	c.192C>T	c.(190-192)aaC>aaT	p.N64N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	64	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCAGGCGGTCGTTCAGGAACT	0.622000													5	104					0	0	1	0	0
IGFBP6	3489	broad.mit.edu	37	12	53491737	53491737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:53491737delC	ENST00000548547.1	+	1	518	c.236delC	c.(235-237)gcfs	p.A79fs	IGFBP6_ENST00000301464.3_Frame_Shift_Del_p.A79fs			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	79	IGFBP N-terminal.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCTAACTGCGCCCCAGGACTG	0.726													2	4	---	---	---	---					
