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
GRIK3	2899	broad.mit.edu	37	1	37346388	37346388	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:37346388T>G	ENST00000373091.3	-	3	413	c.397A>C	c.(397-399)Atc>Ctc	p.I133L	GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	133					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGCAGCTGGATGTGGGGCACC	0.622													20	38	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52280418	52280418	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:52280418C>T	ENST00000354831.7	-	14	1900	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	502					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTGAACACTGAATAAGTA	0.353													12	18	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40657386	40657386	+	Missense_Mutation	SNP	G	G	C	rs142661656	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:40657386G>C	ENST00000406785.2	-	2	224	c.35C>G	c.(34-36)aCc>aGc	p.T12S	SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATTGAAAAGGTGGGTGAAAG	0.408													9	30	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125281979	125281979	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:125281979C>T	ENST00000431078.1	+	9	1788	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483													6	27	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136527363	136527363	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:136527363G>A	ENST00000272638.9	+	7	938	c.627G>A	c.(625-627)agG>agA	p.R209R	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	209					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGAAGAAAGGAGAGAAGAGA	0.303													6	32	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233677165	233677165	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:233677165A>G	ENST00000373566.3	+	19	2334	c.2137A>G	c.(2137-2139)Atc>Gtc	p.I713V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	691	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TACTGGCTCTATCTGGGAGCT	0.383													5	26	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39225934	39225934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr3:39225934G>A	ENST00000340369.3	-	2	5231	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1668							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTTGGGGAGGAGGGAGAATC	0.537													13	61	---	---	---	---
PRSS48	345062	broad.mit.edu	37	4	152212552	152212552	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:152212552T>G	ENST00000455694.2	+	5	936	c.934T>G	c.(934-936)Tgc>Ggc	p.C312G	PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	312					proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AGCTGTTGCTTGCATACAGGG	0.498													13	23	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145890149	145890149	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr5:145890149C>G	ENST00000296702.5	+	22	3279	c.3241C>G	c.(3241-3243)Cgg>Ggg	p.R1081G	TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1081					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATCGCCGGGGTCCACC	0.463													6	30	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6187373	6187373	+	Silent	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:6187373C>T	ENST00000306177.5	+	12	1394	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	412					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCCAGGTCCCATGATGTGA	0.517													6	26	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100371059	100371059	+	RNA	SNP	C	C	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:100371059C>A	ENST00000542585.1	+	0	5725				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAGTGGAACCTCCTGCGTGC	0.632													13	16	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126746596	126746596	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:126746596A>T	ENST00000339582.2	-	3	1489	c.681T>A	c.(679-681)taT>taA	p.Y227*	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	227					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)	CGCTCTCACCATAGTTCCCCT	0.507										HNSCC(24;0.065)			12	26	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22137065	22137065	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr8:22137065G>A	ENST00000356766.6	+	2	314	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	56					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGCCAGAGGAACCAAGCAC	0.562													11	21	---	---	---	---
YPEL4	219539	broad.mit.edu	37	11	57413471	57413471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:57413471C>T	ENST00000524669.1	-	5	3089	c.367G>A	c.(367-369)Gac>Aac	p.D123N	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	123						nucleolus				lung(2)|skin(1)	3						CAGCCGTTGTCCTTCACCATG	0.547													22	33	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73020726	73020726	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:73020726C>T	ENST00000263674.3	+	1	1393	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	348					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGTGGCTCTCCGCCCTGC	0.612													21	39	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27143491	27143491	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:27143491A>G	ENST00000343028.4	-	6	985	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	254						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGACATTGTATATGACACCT	0.453													7	52	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60173227	60173227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:60173227G>A	ENST00000261187.4	+	5	1368	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	402						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.E402*(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTTAACTGGAGAATATAAATA	0.343													13	30	---	---	---	---
SOX1	6656	broad.mit.edu	37	13	112722311	112722311	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr13:112722311G>A	ENST00000330949.1	+	1	399	c.339G>A	c.(337-339)aaG>aaA	p.K113K		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	113					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGCACATGAAGGAGCACCCGG	0.677													5	26	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42279575	42279575	+	Splice_Site	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr15:42279575T>G	ENST00000399518.3	-	17	2318		c.e17-2		PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTCGTCTTCTGCAGGGGAGG	0.577													4	12	---	---	---	---
RGS9BP	388531	broad.mit.edu	37	19	33167292	33167292	+	Silent	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:33167292A>G	ENST00000334176.3	+	1	980	c.123A>G	c.(121-123)caA>caG	p.Q41Q		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	41					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGGAGCTGCAAAAGACGCGCC	0.706													7	13	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41510021	41510021	+	Missense_Mutation	SNP	C	C	A	rs144760726	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:41510021C>A	ENST00000324071.4	+	2	294	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	96					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGGCCTTCTCTGGCCGGGGA	0.637													10	49	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17207956	17207956	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:17207956G>C	ENST00000262545.2	+	1	321	c.6G>C	c.(4-6)aaG>aaC	p.K2N	PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	2					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGGATGAAGGGTGGTTGTG	0.532													9	38	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31680313	31680313	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:31680313G>T	ENST00000375483.3	+	9	1193	c.1193G>T	c.(1192-1194)tGg>tTg	p.W398L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	398						cytoplasm|extracellular region	lipid binding										CCATTGGGGTGGCCAGCTGTG	0.597													9	17	---	---	---	---
TMEM31	203562	broad.mit.edu	37	X	102968708	102968708	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chrX:102968708T>A	ENST00000319560.6	+	3	480	c.289T>A	c.(289-291)Ttt>Att	p.F97I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	97						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTATCCTGAATTTCTTCTGGT	0.463													18	34	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95072931	95072931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr10:95072931delG	ENST00000371501.4	-	51	5857	c.5735delC	c.(5734-5736)cctfs	p.P1912fs	MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.P1912fs			Q9NZM1	MYOF_HUMAN	myoferlin	1912					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATTTTGCAGGAATGATCGT	0.468													71	63	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110475354	110475354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:110475354delA	ENST00000261739.4	+	15	1934	c.1768delA	c.(1768-1770)aaafs	p.K590fs	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	590										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ACTCACTGACAAATAGACCTT	0.572													11	12	---	---	---	---
