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
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	55					0	0	0.115264	0	0
GRM4	2914	broad.mit.edu	37	6	34004179	34004179	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:34004179G>A	ENST00000538487.2	-	9	2151	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	GRM4_ENST00000544773.2_Missense_Mutation_p.R401C|GRM4_ENST00000609222.1_Missense_Mutation_p.R437C|GRM4_ENST00000374181.4_Missense_Mutation_p.R570C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000455714.2_Missense_Mutation_p.R430C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R570C(2)|p.R454C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CAGCCCGTGCGGTTCTCTGTG	0.652000													15	38					0	0	0.520397	0	0
AP3B2	8120	broad.mit.edu	37	15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537000													4	14					0.00024832	0.00029289	0.150653	1	0
IGHV3-9	0	broad.mit.edu	37	14	106552556	106552556	+	RNA	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:106552556C>A	ENST00000390600.2	-	0	162																											TACCAAGCCTCCCCCAGACTC	0.557000													17	66					3.32936e-07	4.1392e-07	0.539581	1	0
SPTBN1	0	broad.mit.edu	37	2	54753666	54753666	+	Silent	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532000													16	54					0	0	0.520397	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259904	71259904	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627000													8	159					0	0	0.335167	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423000													33	121					0	0	0.788014	0	0
MORF4L1	10933	broad.mit.edu	37	15	79177371	79177371	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:79177371T>C	ENST00000331268.5	+	4	422	c.218T>C	c.(217-219)cTt>cCt	p.L73P	MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000558746.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	73					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	p.L73P(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATTGTAGCCCTTTTTCCTGTT	0.443000													3	93					0	0	0.150653	0	0
BEND6	221336	broad.mit.edu	37	6	56882125	56882125	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:56882125G>A	ENST00000370746.3	+	5	909	c.640G>A	c.(640-642)Gca>Aca	p.A214T	BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	214	BEN.							p.A214T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCTGACAGGGGCAAAATCCTC	0.388000													3	30					0	0	0.115264	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	68					0	0	0.184627	0	0
XPO4	64328	broad.mit.edu	37	13	21436893	21436893	+	Silent	SNP	G	G	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr13:21436893G>T	ENST00000400602.2	-	3	315	c.280C>A	c.(280-282)Cga>Aga	p.R94R	XPO4_ENST00000255305.6_Silent_p.R94R|XPO4_ENST00000490513.1_5'UTR	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	94					protein transport	cytoplasm|nucleus	protein binding	p.R67R(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGAATGTTCGCAGAGACTCG	0.433000													9	257					2.17888e-05	2.63759e-05	0.335167	1	0
TLE4	7091	broad.mit.edu	37	9	82320809	82320809	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr9:82320809C>T	ENST00000376520.4	+	10	1563	c.735C>T	c.(733-735)agC>agT	p.S245S	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.S245S	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.S245S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGACAGCGATGGTGAGA	0.398000													6	129					0	0	0.248553	0	0
NGLY1	55768	broad.mit.edu	37	3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr3:25778887T>C	ENST00000428257.1	-	6	1048	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413000													8	61					0	0	0.307466	0	0
TPO	7173	broad.mit.edu	37	2	1499889	1499889	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:1499889G>A	ENST00000345913.4	+	12	2226	c.2135G>A	c.(2134-2136)gGc>gAc	p.G712D	TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000349624.3_Missense_Mutation_p.G539D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.G655D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCAAGTCGGCAAATTCCCC	0.562000													3	49					0	0	0.115264	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	67					0	0	0.184627	0	0
C20orf194	25943	broad.mit.edu	37	20	3236652	3236652	+	Splice_Site	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261G>C	c.(3259-3261)caG>caC	p.Q1087H	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597000													8	27					0	0	0.278610	0	0
CHAF1A	10036	broad.mit.edu	37	19	4442949	4442949	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr19:4442949C>T	ENST00000301280.5	+	15	2899	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	933	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.S933F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCGCTTCCGGAGCTGGG	0.672000								Chromatin Structure					5	18					0	0	0.278610	0	0
TMEM184C	55751	broad.mit.edu	37	4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral to membrane		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323000													23	66					0	0	0.654019	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678365	25678365	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562000			T	ROS1	NSCLC								12	56					0	0	0.411799	0	0
PTPRT	11122	broad.mit.edu	37	20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:40735499T>G	ENST00000373198.4	-	25	3609	c.3374A>C	c.(3373-3375)aAt>aCt	p.N1125T	PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562000													4	103					0	0	0.184627	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													4	68					0	0	0.184627	0	0
DDX60L	91351	broad.mit.edu	37	4	169300651	169300651	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:169300651T>C	ENST00000511577.1	-	32	4473	c.4226A>G	c.(4225-4227)tAt>tGt	p.Y1409C	DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1409							ATP binding|ATP-dependent helicase activity|RNA binding	p.Y1409C(1)|p.Y1410C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTATTTAAATAGTCCTAAAA	0.303000													11	15					0	0	0.387290	0	0
SLK	9748	broad.mit.edu	37	10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388000													7	32					0.00307968	0.00354163	0.278610	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448000													25	54					0	0	0.667858	0	0
BBS10	79738	broad.mit.edu	37	12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373000									Bardet-Biedl syndrome				12	26					0	0	0.387290	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274157	39274157	+	Silent	SNP	G	G	A	rs145503152		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:39274157G>A	ENST00000391413.2	-	1	449	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	137	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.P137P(3)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tgctgcagctggggtggcagc	0.672000													7	38					0	0	0.307466	0	0
CAPN13	92291	broad.mit.edu	37	2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577000													9	22					0	0	0.361761	0	0
APLP2	334	broad.mit.edu	37	11	129979414	129979414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:129979414C>A	ENST00000263574.5	+	2	268	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000532456.1_3'UTR	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	66					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	p.Q66K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGAACATTCAGACTGGGAA	0.458000													3	46					0.115264	0.126242	0.115264	1	0
FZD6	8323	broad.mit.edu	37	8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	485					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358000													14	47					0	0	0.479597	0	0
KCNC4	3749	broad.mit.edu	37	1	110765671	110765671	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr1:110765671G>A	ENST00000369787.3	+	2	791	c.764G>A	c.(763-765)cGc>cAc	p.R255H	KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	255					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATATCGACCGCAACGTGACA	0.567000													4	134					0	0	0.150653	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	55					0	0	0.115264	0	0
GRM4	2914	broad.mit.edu	37	6	34004179	34004179	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr6:34004179G>A	ENST00000538487.2	-	9	2151	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000374181.4_Missense_Mutation_p.R570C|GRM4_ENST00000544773.2_Missense_Mutation_p.R401C|GRM4_ENST00000609222.1_Missense_Mutation_p.R437C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.R430C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R570C(2)|p.R454C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CAGCCCGTGCGGTTCTCTGTG	0.652000													15	38					0	0	0.520397	0	0
AP3B2	8120	broad.mit.edu	37	15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537000													4	14					0.00024832	0.000305079	0.150653	1	0
IGHV3-9	0	broad.mit.edu	37	14	106552556	106552556	+	RNA	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr14:106552556C>A	ENST00000390600.2	-	0	162																											TACCAAGCCTCCCCCAGACTC	0.557000													17	66					3.32936e-07	4.33826e-07	0.539581	1	0
SPTBN1	0	broad.mit.edu	37	2	54753666	54753666	+	Silent	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532000													16	54					0	0	0.520397	0	0
CAPN13	92291	broad.mit.edu	37	2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577000													9	22					0	0	0.361761	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423000													33	121					0	0	0.788014	0	0
MORF4L1	10933	broad.mit.edu	37	15	79177371	79177371	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr15:79177371T>C	ENST00000331268.5	+	4	422	c.218T>C	c.(217-219)cTt>cCt	p.L73P	MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000558746.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	73					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	p.L73P(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATTGTAGCCCTTTTTCCTGTT	0.443000													3	93					0	0	0.150653	0	0
BEND6	221336	broad.mit.edu	37	6	56882125	56882125	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr6:56882125G>A	ENST00000370746.3	+	5	909	c.640G>A	c.(640-642)Gca>Aca	p.A214T	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	214	BEN.							p.A214T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCTGACAGGGGCAAAATCCTC	0.388000													3	30					0	0	0.115264	0	0
HLA-V	0	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr6:29761676C>G	ENST00000457107.1	+	0	902																											gagagggtttcatattcaaga	0.493000													2	7					0	0	0.115264	0	0
TLE4	7091	broad.mit.edu	37	9	82320809	82320809	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr9:82320809C>T	ENST00000376520.4	+	10	1563	c.735C>T	c.(733-735)agC>agT	p.S245S	TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376537.4_Silent_p.S245S|TLE4_ENST00000376534.4_5'UTR	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.S245S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGACAGCGATGGTGAGA	0.398000													6	129					0	0	0.248553	0	0
NGLY1	55768	broad.mit.edu	37	3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr3:25778887T>C	ENST00000428257.1	-	6	1048	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413000													8	61					0	0	0.307466	0	0
TPO	7173	broad.mit.edu	37	2	1499889	1499889	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:1499889G>A	ENST00000345913.4	+	12	2226	c.2135G>A	c.(2134-2136)gGc>gAc	p.G712D	TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000349624.3_Missense_Mutation_p.G539D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCAAGTCGGCAAATTCCCC	0.562000													3	49					0	0	0.115264	0	0
C20orf194	25943	broad.mit.edu	37	20	3236652	3236652	+	Splice_Site	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261G>C	c.(3259-3261)caG>caC	p.Q1087H	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597000													8	27					0	0	0.278610	0	0
TMEM184C	55751	broad.mit.edu	37	4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral to membrane		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323000													23	66					0	0	0.654019	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678365	25678365	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562000			T	ROS1	NSCLC								12	56					0	0	0.411799	0	0
PTPRT	11122	broad.mit.edu	37	20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr20:40735499T>G	ENST00000373198.4	-	25	3609	c.3374A>C	c.(3373-3375)aAt>aCt	p.N1125T	PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562000													4	103					0	0	0.184627	0	0
XPO4	64328	broad.mit.edu	37	13	21436893	21436893	+	Silent	SNP	G	G	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr13:21436893G>T	ENST00000400602.2	-	3	315	c.280C>A	c.(280-282)Cga>Aga	p.R94R	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Silent_p.R94R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	94					protein transport	cytoplasm|nucleus	protein binding	p.R67R(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGAATGTTCGCAGAGACTCG	0.433000													9	257					2.17888e-05	2.75564e-05	0.335167	1	0
DDX60L	91351	broad.mit.edu	37	4	169300651	169300651	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr4:169300651T>C	ENST00000511577.1	-	32	4473	c.4226A>G	c.(4225-4227)tAt>tGt	p.Y1409C	DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1409							ATP binding|ATP-dependent helicase activity|RNA binding	p.Y1409C(1)|p.Y1410C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTATTTAAATAGTCCTAAAA	0.303000													11	15					0	0	0.387290	0	0
SLK	9748	broad.mit.edu	37	10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388000													7	32					0.00307968	0.00367851	0.278610	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448000													25	54					0	0	0.667858	0	0
CHAF1A	10036	broad.mit.edu	37	19	4442949	4442949	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr19:4442949C>T	ENST00000301280.5	+	15	2899	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	933	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.S933F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCGCTTCCGGAGCTGGG	0.672000								Chromatin Structure					5	18					0	0	0.278610	0	0
BBS10	79738	broad.mit.edu	37	12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373000									Bardet-Biedl syndrome				12	26					0	0	0.387290	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000													4	149					1.76689e-08	2.37426e-08	0.335167	1	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259904	71259904	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627000													8	159					0	0	0.335167	0	0
APLP2	334	broad.mit.edu	37	11	129979414	129979414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:129979414C>A	ENST00000263574.5	+	2	268	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000543137.1_5'UTR	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	66					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	p.Q66K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGAACATTCAGACTGGGAA	0.458000													3	46					0.115264	0.133955	0.115264	1	0
FZD6	8323	broad.mit.edu	37	8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	485					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358000													14	47					0	0	0.479597	0	0
KCNC4	3749	broad.mit.edu	37	1	110765671	110765671	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr1:110765671G>A	ENST00000369787.3	+	2	791	c.764G>A	c.(763-765)cGc>cAc	p.R255H	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	255					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATATCGACCGCAACGTGACA	0.567000													4	134					0	0	0.150653	0	0
DNAH7	56171	broad.mit.edu	37	2	196681466	196681467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:196681466_196681467insA	ENST00000312428.6	-	51	9746_9747	c.9646_9647insT	c.(9646-9648)tctfs	p.S3216fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3216					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAGCAAGAGAAAAAAATAGG	0.411													12	95	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815894	19815895	+	RNA	INS	-	-	A	rs145239076		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:19815894_19815895insA	ENST00000511431.1	+	0	288																											CTCTGGGCTGTaaaaaaaaaaa	0.416													3	6	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100349724	100349724	+	RNA	DEL	G	G	-			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr7:100349724delG	ENST00000542585.1	+	0	2144				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)			CACCCCCACTGAGGAGACCAC	0.537													15	34	---	---	---	---					
CD68	968	broad.mit.edu	37	17	7483262	7483263	+	Frame_Shift_Del	DEL	CA	CA	-	rs143998725		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:7483262_7483263delCA	ENST00000250092.6	+	2	395_396	c.184_185delCA	c.(184-186)cacfs	p.H62fs	CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	62	Mucin-like.					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						Aaccaccactcacaggacaacc	0.564													14	24	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196681466	196681467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:196681466_196681467insA	ENST00000312428.6	-	51	9746_9747	c.9646_9647insT	c.(9646-9648)tctfs	p.S3216fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3216					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAGCAAGAGAAAAAAATAGG	0.411													12	95	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100349724	100349724	+	RNA	DEL	G	G	-			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr7:100349724delG	ENST00000542585.1	+	0	2144				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_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)			CACCCCCACTGAGGAGACCAC	0.537													15	34	---	---	---	---					
HNRNPKP3	0	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1																						GAAGCAAATGTAAAAAAAAAAA	0.386													4	5	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													2	4	---	---	---	---					
CD68	968	broad.mit.edu	37	17	7483262	7483263	+	Frame_Shift_Del	DEL	CA	CA	-	rs143998725		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr17:7483262_7483263delCA	ENST00000250092.6	+	2	395_396	c.184_185delCA	c.(184-186)cacfs	p.H62fs	CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	62	Mucin-like.					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						Aaccaccactcacaggacaacc	0.564													14	24	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													2	4	---	---	---	---					
