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
RIMS4	140730	broad.mit.edu	37	20	43385542	43385542	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:43385542G>A	ENST00000372851.3	-	5	654	c.588C>T	c.(586-588)ctC>ctT	p.L196L	RIMS4_ENST00000541604.2_Silent_p.L197L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	196	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCCTCACCTGGAGGACTTTGC	0.582000													36	148					0	0	0.004289	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459497	107459497	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:107459497C>T	ENST00000409382.3	-	2	1547	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E313K|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E313K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTACCTATTTCCTCGCCCAAG	0.667000													5	11					0	0	0.001168	0	0
RNF123	63891	broad.mit.edu	37	3	49742550	49742550	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:49742550C>T	ENST00000327697.6	+	23	2237	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	RNF123_ENST00000432042.1_Missense_Mutation_p.P552L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	698						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCACGGCGGCCTCTGAGCACC	0.667000													4	7					0	0	0.000602	0	0
ILDR1	286676	broad.mit.edu	37	3	121712426	121712426	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:121712426C>T	ENST00000273691.3	-	6	1143	c.1038G>A	c.(1036-1038)ttG>ttA	p.L346L	ILDR1_ENST00000462014.1_Silent_p.L358L|ILDR1_ENST00000393631.1_Silent_p.L301L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Silent_p.L390L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	390						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCCTTCTTTCCAATGCCCAAG	0.587000													11	42					0	0	0.000978	0	0
PIGQ	9091	broad.mit.edu	37	16	624430	624430	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:624430G>A	ENST00000321878.5	+	2	515	c.356G>A	c.(355-357)gGt>gAt	p.G119D	PIGQ_ENST00000026218.5_Missense_Mutation_p.G119D|PIGQ_ENST00000409527.2_Missense_Mutation_p.G119D|PIGQ_ENST00000470411.2_Missense_Mutation_p.G119D	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	119					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ACTGCCCCCGGTGCCCCTGGT	0.682000													4	20					0	0	0.000602	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	G	A	rs143629932		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:141619380G>A	ENST00000548136.1	+	1	764	c.705G>A	c.(703-705)agG>agA	p.R235R	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000													7	82					0	0	0.006214	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586958	15586958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:15586958C>T	ENST00000292609.4	-	2	652	c.523G>A	c.(523-525)Gat>Aat	p.D175N	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D175N			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	175					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGAGAGCCATCCCTGAGTCCT	0.542000													18	81					0	0	0.004990	0	0
CREBBP	1387	broad.mit.edu	37	16	3808895	3808895	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:3808895G>C	ENST00000262367.5	-	17	4138	c.3329C>G	c.(3328-3330)cCt>cGt	p.P1110R	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1072R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1110	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCCGGAAAGGTAATGACTC	0.453000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						15	44					0	0	0.002450	0	0
ZNF799	90576	broad.mit.edu	37	19	12501407	12501407	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:12501407G>A	ENST00000419318.1	-	4	2458	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	ZNF799_ENST00000430385.3_Missense_Mutation_p.S602F|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCTATGCAAGGAACTGAGAGA	0.413000													19	68					0	0	0.005443	0	0
IFNA5	3442	broad.mit.edu	37	9	21305033	21305033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:21305033G>A	ENST00000259555.4	-	1	279	c.223C>T	c.(223-225)Caa>Taa	p.Q75*		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	75					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGATGGCTTGAGCCTTCTGG	0.473000													33	72					0	0	0.003271	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188633	140188633	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140188633C>T	ENST00000530339.1	+	1	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P621S|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P621S	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGCATCCCGTTCCGCGT	0.672000													13	50					0	0	0.001855	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:56423937C>T	ENST00000588751.1	-	5	1270	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000													12	42					0	0	0.000978	0	0
RGS6	9628	broad.mit.edu	37	14	72818858	72818858	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:72818858G>A	ENST00000553530.1	+	3	347	c.140G>A	c.(139-141)aGa>aAa	p.R47K	RGS6_ENST00000404301.2_Missense_Mutation_p.R47K|RGS6_ENST00000406236.4_Missense_Mutation_p.R47K|RGS6_ENST00000402788.2_Missense_Mutation_p.R47K|RGS6_ENST00000355512.6_Missense_Mutation_p.R47K|RGS6_ENST00000407322.4_Missense_Mutation_p.R47K|RGS6_ENST00000553525.1_Missense_Mutation_p.R47K|RGS6_ENST00000343854.6_Missense_Mutation_p.R47K|RGS6_ENST00000555571.1_Missense_Mutation_p.R47K|RGS6_ENST00000556437.1_Missense_Mutation_p.R47K	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	47	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTGCCCATCAGAACAGTCAAG	0.418000													4	25					0	0	0.001168	0	0
COL16A1	1307	broad.mit.edu	37	1	32151372	32151372	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:32151372C>T	ENST00000373672.3	-	29	2401		c.e29-1		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGGCTCCCCCTGCCAAGCAA	0.622000													18	94					0	0	0.001523	0	0
NAV3	89795	broad.mit.edu	37	12	78573380	78573380	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:78573380T>A	ENST00000397909.2	+	29	5608	c.5435T>A	c.(5434-5436)tTa>tAa	p.L1812*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.L1613*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.L1790*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.L1790*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1812						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAAAGGAATTAAAATTAACG	0.473000										HNSCC(70;0.22)			14	64					0	0	0.003163	0	0
GALNT14	79623	broad.mit.edu	37	2	31135094	31135094	+	Nonsense_Mutation	SNP	G	G	A	rs35447902		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:31135094G>A	ENST00000349752.5	-	14	2134	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R479*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R464*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R504*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R466*|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	499	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTACCTGTCGGTCATCTCCA	0.532000													22	80					0	0	0.002299	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834786	24834786	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:24834786G>A	ENST00000376454.3	+	21	5395	c.5365G>A	c.(5365-5367)Gac>Aac	p.D1789N	KIAA1217_ENST00000376452.3_Missense_Mutation_p.D1220N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D1195N|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D1110N	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1789					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATCTGGTGGGGACTTTAAGCC	0.507000													16	80					0	0	0.007413	0	0
SLC25A34	284723	broad.mit.edu	37	1	16065802	16065802	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:16065802C>T	ENST00000294454.5	+	5	897	c.816C>T	c.(814-816)ggC>ggT	p.G272G	SLC25A34_ENST00000489568.1_3'UTR	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	272					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCCTGGGCCCCGCCTACC	0.667000													7	65					0	0	0.003080	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798066	55798066	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:55798066C>T	ENST00000313555.1	+	1	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTTCAAATTCCCATGTATTA	0.338000													6	33					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82538321	82538321	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:82538321G>A	ENST00000423517.2	-	8	13646	c.13309C>T	c.(13309-13311)Ctg>Ttg	p.L4437L	PCLO_ENST00000333891.8_Silent_p.L4437L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4368	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCACGACGCAGATGATAGGCT	0.458000													6	34					0	0	0.001168	0	0
CALB2	794	broad.mit.edu	37	16	71406132	71406132	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:71406132G>A	ENST00000302628.4	+	2	248	c.171_splice	c.e2+1	p.M57_splice	CALB2_ENST00000349553.5_Splice_Site_p.M57_splice	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	57							calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTCTGGCATGGTAAGCCCAG	0.453000													6	46					0	0	0.001168	0	0
FBXO36	130888	broad.mit.edu	37	2	230875490	230875490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:230875490G>A	ENST00000373652.3	+	5	785	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	FBXO36_ENST00000409992.1_Missense_Mutation_p.A133T|FBXO36_ENST00000283946.3_Missense_Mutation_p.A153T			Q8NEA4	FBX36_HUMAN	F-box protein 36	153	F-box.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGGGCCCTGGCGGAGGACAC	0.537000													10	16					0	0	0.008291	0	0
ADH1B	125	broad.mit.edu	37	4	100237269	100237269	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:100237269C>T	ENST00000305046.8	-	5	420	c.353G>A	c.(352-354)gGc>gAc	p.G118D	ADH1B_ENST00000394887.3_Missense_Mutation_p.G78D			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	118					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCGAGGATTGCCTAGACTGGG	0.537000													8	23					0	0	0.003080	0	0
ZNF608	57507	broad.mit.edu	37	5	123984196	123984196	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:123984196G>A	ENST00000306315.5	-	4	2316	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	ZNF608_ENST00000504926.1_Silent_p.S200S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	627						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CAGCACCAGGGGATGCCGGTG	0.512000													12	28					0	0	0.000978	0	0
LST3	0	broad.mit.edu	37	12	21242939	21242939	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:21242939G>A	ENST00000540229.1	+	16	2211	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.D608N|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.D655N|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D655N|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D716N														p.D608Y(1)									CCATGGAAAGGATACCAAAGT	0.343000													7	21					0	0	0.001984	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119895	142119895	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:142119895C>T	ENST00000390377.1	-	0	271																											GGAGATGGATCCCTCAGGCCT	0.562000													12	68					0	0	0.001368	0	0
HIP1	3092	broad.mit.edu	37	7	75174462	75174462	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:75174462A>G	ENST00000336926.6	-	26	2610	c.2584T>C	c.(2584-2586)Tat>Cat	p.Y862H	HIP1_ENST00000434438.2_Missense_Mutation_p.Y811H	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	862	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCTTGGCATAAAACTCTTTA	0.428000			T	PDGFRB	CMML								32	126					0	0	0.002096	0	0
MRPS9	64965	broad.mit.edu	37	2	105716142	105716142	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:105716142A>G	ENST00000258455.3	+	11	1224	c.1114A>G	c.(1114-1116)Act>Gct	p.T372A	AC104655.2_ENST00000449177.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	372					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACTACTTACTACTGATCCACG	0.468000													5	30					0	0	0.001168	0	0
ASB15	142685	broad.mit.edu	37	7	123267311	123267311	+	Missense_Mutation	SNP	G	G	A	rs142770562	by1000genomes	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:123267311G>A	ENST00000451558.1	+	11	1366	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	ASB15_ENST00000540573.1_Missense_Mutation_p.R282Q|ASB15_ENST00000434204.1_Missense_Mutation_p.R282Q|ASB15_ENST00000275699.3_Missense_Mutation_p.R282Q|ASB15_ENST00000451215.1_Missense_Mutation_p.R282Q			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	282					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCTATACACCGAGCTGCCTAT	0.423000													4	32					0	0	0.000602	0	0
KRT71	112802	broad.mit.edu	37	12	52941675	52941675	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:52941675C>T	ENST00000267119.5	-	6	1139	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	357	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TGAGCGGATTCTCTGGATGAG	0.562000													22	80					0	0	0.002299	0	0
XPO7	23039	broad.mit.edu	37	8	21844783	21844783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:21844783C>T	ENST00000434536.1	+	14	1838	c.1736C>T	c.(1735-1737)tCt>tTt	p.S579F	XPO7_ENST00000433566.4_Missense_Mutation_p.S571F|XPO7_ENST00000252512.9_Missense_Mutation_p.S570F			Q9UIA9	XPO7_HUMAN	exportin 7	570					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGAAATCCTCTAAGGTAACA	0.473000													16	50					0	0	0.006122	0	0
PDIA2	64714	broad.mit.edu	37	16	333347	333347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:333347C>T	ENST00000219406.6	+	1	196	c.178C>T	c.(178-180)Cct>Tct	p.P60S	PDIA2_ENST00000404312.1_Missense_Mutation_p.P60S	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	60	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCGGGAGCACCCTGCCCTGCT	0.706000													9	33					0	0	0.002450	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655683	46655683	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:46655683G>A	ENST00000253255.5	-	1	3536	c.3537C>T	c.(3535-3537)agC>agT	p.S1179S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1179					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTGGTGAAGGCTCTTGATGA	0.473000													46	100					0	0	0.003610	0	0
KEAP1	9817	broad.mit.edu	37	19	10610321	10610321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:10610321G>A	ENST00000171111.5	-	2	936	c.389C>T	c.(388-390)cCc>cTc	p.P130L	KEAP1_ENST00000393623.2_Missense_Mutation_p.P130L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	130	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGACCTTGGGGTGGATACC	0.587000													8	35					0	0	0.006214	0	0
DCN	1634	broad.mit.edu	37	12	91539912	91539912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:91539912G>A	ENST00000052754.5	-	8	1504	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	DCN_ENST00000303320.3_Nonsense_Mutation_p.Q148*|DCN_ENST00000547568.2_Nonsense_Mutation_p.Q188*|DCN_ENST00000228329.5_Nonsense_Mutation_p.Q226*|DCN_ENST00000552962.1_Nonsense_Mutation_p.Q335*|DCN_ENST00000425043.1_Nonsense_Mutation_p.Q188*|DCN_ENST00000441303.2_Nonsense_Mutation_p.Q148*|DCN_ENST00000420120.2_Nonsense_Mutation_p.Q226*|DCN_ENST00000393155.1_Nonsense_Mutation_p.Q335*	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	335					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCCCAGTACTGGACCGGGTTG	0.458000													20	32					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179613791	179613791	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:179613791C>T	ENST00000360870.5	-	46	13558	c.13336G>A	c.(13336-13338)Ggt>Agt	p.G4446S	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	574	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCTTCACCAAGGGATTCT	0.353000													6	40					0	0	0.001168	0	0
GALK1	2584	broad.mit.edu	37	17	73758813	73758813	+	Silent	SNP	G	G	A	rs146095595		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:73758813G>A	ENST00000588479.1	-	5	1339	c.765C>T	c.(763-765)ctC>ctT	p.L255L	GALK1_ENST00000225614.2_Silent_p.L255L|GALK1_ENST00000437911.1_Silent_p.L285L			P51570	GALK1_HUMAN	galactokinase 1	255					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACCTCCCGGAGGCTTTCCT	0.637000													9	48					0	0	0.008291	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365833	35365833	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:35365833C>T	ENST00000373347.1	-	4	1417	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	DLGAP3_ENST00000235180.4_Silent_p.K383K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	383					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCTCCCCATCCTTGCCACCGG	0.607000													18	79					0	0	0.001523	0	0
AE000661.37	0	broad.mit.edu	37	14	22932248	22932248	+	RNA	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:22932248G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							TGGGGAACAAGAATTGGGTGA	0.428000													15	30					0	0	0.004990	0	0
CHAT	1103	broad.mit.edu	37	10	50833529	50833529	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:50833529C>T	ENST00000395562.2	+	7	986	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	CHAT_ENST00000351556.3_Missense_Mutation_p.P137S|CHAT_ENST00000339797.1_Missense_Mutation_p.P137S|CHAT_ENST00000337653.2_Missense_Mutation_p.P255S|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.P137S|CHAT_ENST00000455728.2_Missense_Mutation_p.P137S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	255					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCACTCCATTCCCACTGACTG	0.572000													7	22					0	0	0.004482	0	0
IGHG2	3501	broad.mit.edu	37	14	106109851	106109851	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:106109851C>T	ENST00000390545.2	-	0	669																											ACCTGTGGTTCTCGGGGCTGC	0.652000													8	164					0	0	0.001855	0	0
SPEN	23013	broad.mit.edu	37	1	16257865	16257865	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:16257865A>C	ENST00000375759.3	+	11	5334	c.5130A>C	c.(5128-5130)aaA>aaC	p.K1710N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1710					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACCCCGATAAAGAAGCTGCCA	0.582000													35	124					0	0	0.002445	0	0
OR4K1	79544	broad.mit.edu	37	14	20404621	20404621	+	Missense_Mutation	SNP	C	C	T	rs147347995		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:20404621C>T	ENST00000285600.4	+	1	855	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P266S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGCAGACTTCCTGTGGACAA	0.413000													20	92					0	0	0.001523	0	0
SYTL5	94122	broad.mit.edu	37	X	37969626	37969626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:37969626G>A	ENST00000357972.5	+	13	2033	c.1487G>A	c.(1486-1488)tGg>tAg	p.W496*	SYTL5_ENST00000456733.2_Nonsense_Mutation_p.W518*|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Nonsense_Mutation_p.W496*			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	496	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTCTCAGTCTGGCACTATGAT	0.448000													12	25					0	0	0.001368	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471555	61471555	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:61471555C>T	ENST00000398019.2	+	8	1154	c.829C>T	c.(829-831)Cct>Tct	p.P277S	SERPINB7_ENST00000546027.1_Missense_Mutation_p.P277S|SERPINB7_ENST00000540675.1_Missense_Mutation_p.P260S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P277S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	277					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGTATTTTTTCCTCAGTTCAA	0.353000													10	25					0	0	0.006214	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471599	20471599	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:20471599G>A	ENST00000573854.1	+	2	277	c.163G>A	c.(163-165)Gct>Act	p.A55T	ACSM2A_ENST00000536134.1_De_novo_Start_InFrame|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A55T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A55T|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A55T|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A55T|ACSM2A_ENST00000575558.1_Intron	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	55					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGATCACTGGGCTGACATGGA	0.428000													7	15					0	0	0.003080	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	C	T	rs149614119	by1000genomes	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143747706C>T	ENST00000408906.2	+	1	246	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000													15	63					0	0	0.002450	0	0
PLOD1	5351	broad.mit.edu	37	1	12010498	12010498	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:12010498G>A	ENST00000196061.4	+	4	414	c.387G>A	c.(385-387)gaG>gaA	p.E129E	PLOD1_ENST00000376369.3_Silent_p.E176E|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	129					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCTGCTGAGGAGCTCATCT	0.632000													9	47					0	0	0.004482	0	0
CDS1	1040	broad.mit.edu	37	4	85538786	85538786	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:85538786G>A	ENST00000295887.5	+	4	835	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	138					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTCTTATGATCTACCATG	0.328000													11	36					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9060909	9060909	+	Missense_Mutation	SNP	G	G	A	rs144604762	by1000genomes	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9060909G>A	ENST00000397910.4	-	3	26740	c.26537C>T	c.(26536-26538)tCa>tTa	p.S8846L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTTCCACTGATGGGCGGCT	0.517000													18	80					0	0	0.008871	0	0
OR14C36	127066	broad.mit.edu	37	1	248512160	248512160	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:248512160C>T	ENST00000317861.1	+	1	84	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTCTGCATCCTTCTTTATGT	0.443000													23	74					0	0	0.002299	0	0
COL6A5	256076	broad.mit.edu	37	3	130188179	130188179	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:130188179C>T	ENST00000265379.6	+	38	7825	c.7331C>T	c.(7330-7332)tCc>tTc	p.S2444F	COL6A5_ENST00000432398.2_Missense_Mutation_p.S2444F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2444	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTGTTTTCCTTTGGCCCT	0.443000													8	22					0	0	0.004482	0	0
IKZF1	10320	broad.mit.edu	37	7	50459541	50459541	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:50459541C>T	ENST00000331340.3	+	7	985	c.830C>T	c.(829-831)tCt>tTt	p.S277F	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.S235F|IKZF1_ENST00000439701.1_Missense_Mutation_p.S235F|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.S190F|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.S190F|IKZF1_ENST00000357364.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	277					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGTAAGAGCTCTATGCCTCAG	0.413000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	15					0	0	0.000602	0	0
SNORD114-9	767585	broad.mit.edu	37	14	101432434	101432434	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:101432434C>T	ENST00000364370.1	+	0	69					NR_003201.1																						ACTCTGAGGTCCATCACAGAA	0.388000													17	79					0	0	0.008871	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645890	19645890	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:19645890C>T	ENST00000555938.1	+	5	375	c.363C>T	c.(361-363)gtC>gtT	p.V121V	YJEFN3_ENST00000436027.4_Silent_p.V72V|YJEFN3_ENST00000514277.3_Silent_p.V122V																							CGGTGCTGGTCGTGTGTGGCC	0.642000													14	107					0	0	0.004007	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100017492	100017492	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:100017492G>A	ENST00000398027.2	-	4	290	c.43C>T	c.(43-45)Cca>Tca	p.P15S	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.P15S|ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	15							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTCTCTTTGGTCCCTTTCCA	0.448000													7	41					0	0	0.003080	0	0
MKI67	4288	broad.mit.edu	37	10	129906764	129906764	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:129906764G>A	ENST00000368654.3	-	13	3715	c.3340C>T	c.(3340-3342)Ccc>Tcc	p.P1114S	MKI67_ENST00000368653.3_Missense_Mutation_p.P754S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1114	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCTCAGAGGGACCTGGTGTC	0.498000													50	158					0	0	0.003610	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622103	74622103	+	Missense_Mutation	SNP	C	C	T	rs151127625		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:74622103C>T	ENST00000156626.7	-	7	1689	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	497					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTTCATGTATCGGAGAAAGTC	0.542000													27	111					0	0	0.008361	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882972	78882972	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:78882972C>T	ENST00000299565.5	+	5	1439	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	413					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						AAAATGATGTCCGTGAGGTCT	0.388000													5	20					0	0	0.000602	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572122	76572122	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:76572122G>A	ENST00000307431.8	+	20	3487	c.3102G>A	c.(3100-3102)atG>atA	p.M1034I	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.M962I|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M1038I|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.M986I	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1035					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGTGATATGAAGCTGAGCA	0.373000													10	61					0	0	0.001368	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169876	90169876	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:90169876G>A	ENST00000333209.3	-	2	1904	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	462										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TAGCTTTCAGGGAGCTAGAAT	0.458000													19	63					0	0	0.006122	0	0
A2M	2	broad.mit.edu	37	12	9246085	9246085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:9246085C>T	ENST00000318602.7	-	18	2523	c.2216G>A	c.(2215-2217)tGg>tAg	p.W739*		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	739					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATCCCAGATCCATGTCTCAGG	0.458000													5	29					0	0	0.001168	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200434	72200434	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:72200434G>A	ENST00000555818.1	+	19	5324	c.4976G>A	c.(4975-4977)aGg>aAg	p.R1659K	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R1113K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1638K|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1638K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1659					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGACCCGCAGGCAGCCTATG	0.597000													12	44					0	0	0.002450	0	0
MYH14	79784	broad.mit.edu	37	19	50721003	50721003	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:50721003G>A	ENST00000440075.2	+	3	584	c.537G>A	c.(535-537)gaG>gaA	p.E179E	MYH14_ENST00000596571.1_Silent_p.E179E|MYH14_ENST00000425460.1_Silent_p.E179E|MYH14_ENST00000601313.1_Silent_p.E179E|MYH14_ENST00000598205.1_Silent_p.E179E|MYH14_ENST00000376970.2_Silent_p.E179E|MYH14_ENST00000262269.8_Silent_p.E179E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	179	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CAGTGACCGAGGGGGCCTATC	0.647000													22	52					0	0	0.003954	0	0
BSG	682	broad.mit.edu	37	19	580652	580652	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:580652C>T	ENST00000333511.3	+	5	732	c.662C>T	c.(661-663)cCc>cTc	p.P221L	BSG_ENST00000545507.2_Missense_Mutation_p.P12L|BSG_ENST00000353555.4_Missense_Mutation_p.P105L|BSG_ENST00000346916.4_Missense_Mutation_p.P41L	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	221	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGGCCTCCCAGAGTGAAG	0.662000													7	22					0	0	0.003080	0	0
CDH24	64403	broad.mit.edu	37	14	23517499	23517499	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:23517499G>A	ENST00000397359.3	-	13	2409	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	CDH24_ENST00000487137.2_Missense_Mutation_p.P679L|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.P717L|CDH24_ENST00000554034.1_Missense_Mutation_p.P679L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	717					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		Tcggcgcgcgggagggccggg	0.791000													10	20					0	0	0.006214	0	0
SCN10A	6336	broad.mit.edu	37	3	38753670	38753670	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:38753670G>A	ENST00000449082.2	-	22	4070	c.4071C>T	c.(4069-4071)taC>taT	p.Y1357Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1357					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAAGTGCAAGGTAACCCATTG	0.433000													19	54					0	0	0.001882	0	0
ZNF267	10308	broad.mit.edu	37	16	31926985	31926985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:31926985C>T	ENST00000300870.10	+	4	1624	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	472					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TGTAGCAAATCTTATGCTCGT	0.348000													16	53					0	0	0.004007	0	0
XPO6	23214	broad.mit.edu	37	16	28118943	28118943	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:28118943G>A	ENST00000304658.5	-	18	2897	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	XPO6_ENST00000565698.1_Silent_p.I785I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	799					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACTCCCCCGAGATATTCTCCA	0.483000													12	71					0	0	0.003163	0	0
THEMIS	387357	broad.mit.edu	37	6	128222009	128222009	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:128222009G>A	ENST00000543064.1	-	1	217	c.69C>T	c.(67-69)atC>atT	p.I23I	THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Silent_p.I23I|THEMIS_ENST00000537166.1_Intron	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	23	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGCCTGCCTGGATTTCTAGAA	0.448000													17	64					0	0	0.008871	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36269473	36269473	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:36269473C>T	ENST00000007510.4	+	5	522	c.378C>T	c.(376-378)ccC>ccT	p.P126P	ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Silent_p.P126P|ARHGAP33_ENST00000221905.1_3'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	126	PX; atypical.|Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGGAGCTTCCCCCGCCCCCCG	0.607000													13	36					0	0	0.001368	0	0
NHLRC4	283948	broad.mit.edu	37	16	618057	618057	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:618057C>T	ENST00000424439.2	+	2	667	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	NHLRC4_ENST00000540585.1_Silent_p.L4L|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	4																	CATGCTGGGTCTGGAGGGCCC	0.667000													5	15					0	0	0.001984	0	0
ARPP21	10777	broad.mit.edu	37	3	35835244	35835244	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:35835244C>G	ENST00000187397.4	+	20	2689	c.2233C>G	c.(2233-2235)Cca>Gca	p.P745A	ARPP21_ENST00000458225.1_Missense_Mutation_p.P746A|ARPP21_ENST00000417925.1_Missense_Mutation_p.P746A|ARPP21_ENST00000444190.1_Missense_Mutation_p.P726A|ARPP21_ENST00000337271.5_Missense_Mutation_p.P726A|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	745	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATACCAACAGCCAATCATGCT	0.507000													11	29					0	0	0.008291	0	0
KALRN	8997	broad.mit.edu	37	3	124209608	124209608	+	Silent	SNP	G	G	A	rs139928910		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:124209608G>A	ENST00000360013.3	+	30	4585	c.4458G>A	c.(4456-4458)ccG>ccA	p.P1486P	KALRN_ENST00000460856.1_Silent_p.P1477P|KALRN_ENST00000240874.3_Silent_p.P1486P	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1486	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.P1486P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGGGACCCGAAGTCGCTGA	0.507000													9	51					0	0	0.004482	0	0
KRT31	3881	broad.mit.edu	37	17	39550407	39550407	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:39550407G>A	ENST00000251645.2	-	7	1164	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	371	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGTGGCACAGGGATTGCTGGG	0.532000													14	58					0	0	0.004990	0	0
OR2F2	135948	broad.mit.edu	37	7	143633111	143633111	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143633111C>T	ENST00000408955.2	+	1	853	c.786C>T	c.(784-786)ccC>ccT	p.P262P		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACATCCAGCCCCACTCTGGTC	0.488000													12	69					0	0	0.002450	0	0
MYH4	4622	broad.mit.edu	37	17	10358064	10358064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:10358064C>T	ENST00000255381.2	-	22	2609	c.2499G>A	c.(2497-2499)tgG>tgA	p.W833*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	833					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACAGCTTCATCCAGGGCCAGT	0.428000													13	66					0	0	0.001855	0	0
HERC5	51191	broad.mit.edu	37	4	89378622	89378622	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:89378622C>T	ENST00000264350.3	+	1	355	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	68					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGTCTTGGAACGCGGCGGGGC	0.751000													5	6					0	0	0.001168	0	0
RAD54L	8438	broad.mit.edu	37	1	46726410	46726410	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:46726410C>T	ENST00000371975.4	+	7	1163	c.489C>T	c.(487-489)ttC>ttT	p.F163F	RAD54L_ENST00000442598.1_Silent_p.F163F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	163					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGTGAAATTCCTGTGGGAGT	0.562000								Direct reversal of damage;Homologous recombination					6	37					0	0	0.001984	0	0
ADAM2	2515	broad.mit.edu	37	8	39682369	39682369	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:39682369C>T	ENST00000265708.4	-	4	339	c.236G>A	c.(235-237)gGa>gAa	p.G79E	ADAM2_ENST00000521880.1_Missense_Mutation_p.G79E|ADAM2_ENST00000379853.2_Missense_Mutation_p.G79E|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.G79E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	79					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTTCATAATTCCTGTGCCACT	0.294000													10	16					0	0	0.008291	0	0
ACSM1	116285	broad.mit.edu	37	16	20635437	20635437	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:20635437G>A	ENST00000219151.4	-	13	1791	c.581C>T	c.(580-582)cCa>cTa	p.P194L	ACSM1_ENST00000307493.4_Missense_Mutation_p.P543L|ACSM1_ENST00000520010.1_Missense_Mutation_p.P543L			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	543					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTACTTGTATGGGGCTGTCAC	0.547000													38	103					0	0	0.006999	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656192	46656192	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:46656192T>G	ENST00000253255.5	-	1	3027	c.3028A>C	c.(3028-3030)Aca>Cca	p.T1010P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1010					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCAACACTGTGAACAGCACC	0.537000													20	96					0	0	0.001523	0	0
MRVI1	10335	broad.mit.edu	37	11	10647629	10647629	+	Missense_Mutation	SNP	C	C	T	rs11604405		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:10647629C>T	ENST00000547195.1	-	8	1479	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	MRVI1_ENST00000421747.1_Missense_Mutation_p.E409K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E103K|MRVI1_ENST00000545852.1_Missense_Mutation_p.E103K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E391K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E327K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E410K|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.E103K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E103K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E327K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E418K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	391					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGCTTTTCTTCCTCTGCCAGT	0.627000													4	13					0	0	0.000248	0	0
STYK1	55359	broad.mit.edu	37	12	10772807	10772807	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:10772807T>C	ENST00000075503.3	-	11	1725	c.1205A>G	c.(1204-1206)gAa>gGa	p.E402G		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	402						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGCATACAGTTCAGGTACCAC	0.507000										HNSCC(73;0.22)			39	155					0	0	0.008740	0	0
ADCY8	114	broad.mit.edu	37	8	131880139	131880139	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:131880139G>A	ENST00000286355.5	-	9	4255	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	721					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATAGAAGAACGATAAATGCAC	0.348000										HNSCC(32;0.087)			5	49					0	0	0.001168	0	0
MON2	23041	broad.mit.edu	37	12	62926306	62926306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:62926306C>T	ENST00000393630.3	+	12	1880	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	MON2_ENST00000393632.2_Missense_Mutation_p.R497C|MON2_ENST00000552115.1_Missense_Mutation_p.R497C|MON2_ENST00000393629.2_Missense_Mutation_p.R497C|MON2_ENST00000280379.6_Missense_Mutation_p.R497C|MON2_ENST00000546600.1_Missense_Mutation_p.R497C|MON2_ENST00000552738.1_Missense_Mutation_p.R497C	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	497					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGACCTTGTTCGTGGAATCAC	0.428000													10	38					0	0	0.001368	0	0
GRIA2	2891	broad.mit.edu	37	4	158224858	158224858	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:158224858G>A	ENST00000296526.7	+	3	709	c.384G>A	c.(382-384)atG>atA	p.M128I	GRIA2_ENST00000264426.9_Missense_Mutation_p.M128I|GRIA2_ENST00000393815.2_Missense_Mutation_p.M81I|GRIA2_ENST00000449365.1_Missense_Mutation_p.M81I|GRIA2_ENST00000507898.1_Missense_Mutation_p.M81I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	128					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCATTCAGATGAGACCCGACC	0.448000													38	110					0	0	0.008740	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135098965	135098965	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:135098965G>A	ENST00000368563.2	-	12	2246	c.1890C>T	c.(1888-1890)atC>atT	p.I630I	TUBGCP2_ENST00000543663.1_Silent_p.I658I|TUBGCP2_ENST00000252936.3_Silent_p.I630I|TUBGCP2_ENST00000417178.2_Silent_p.I500I|TUBGCP2_ENST00000368562.1_Silent_p.I223I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	630					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CGCACCTGTTGATGATGAGCG	0.637000													10	34					0	0	0.008291	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785479	22785479	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:22785479C>T	ENST00000600260.1	+	0	1568					NR_033899.1																						ATCGCTGCATCCAGCTCTCTG	0.602000													15	53					0	0	0.003163	0	0
C5orf42	65250	broad.mit.edu	37	5	37198860	37198860	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:37198860G>A	ENST00000274258.7	-	20	3846	c.259C>T	c.(259-261)Cct>Tct	p.P87S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P1206S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1206S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1206										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGTGCTACAGGAAAAGAACAC	0.403000													7	49					0	0	0.004482	0	0
INPP4B	8821	broad.mit.edu	37	4	142949951	142949951	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:142949951C>T	ENST00000513000.1	-	27	3192	c.2759G>A	c.(2758-2760)gGa>gAa	p.G920E	INPP4B_ENST00000262992.4_Missense_Mutation_p.G920E|INPP4B_ENST00000508116.1_Missense_Mutation_p.G920E|INPP4B_ENST00000308502.4_Missense_Mutation_p.G920E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	920					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTCAGCTTTTCCATAAGTCCC	0.368000													6	40					0	0	0.003080	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282105	71282105	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:71282105G>A	ENST00000335793.3	-	2	929	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.L109F			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	179					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGCTCATCGAGGAGGGGGTCA	0.652000													11	42					0	0	0.008291	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777753	43777753	+	Nonsense_Mutation	SNP	G	G	A	rs144064003	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:43777753G>A	ENST00000389420.3	-	30	4479	c.4480C>T	c.(4480-4482)Cag>Tag	p.Q1494*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1494	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCCTCTGCTGAACTCCAGAG	0.448000													7	28					0	0	0.003080	0	0
POTEC	388468	broad.mit.edu	37	18	14542741	14542741	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:14542741G>A	ENST00000358970.5	-	1	404	c.405C>T	c.(403-405)gtC>gtT	p.V135V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	135										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCTCGACGGACGTGGTACC	0.602000													26	57					0	0	0.003330	0	0
PAPPA	5069	broad.mit.edu	37	9	118949853	118949853	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:118949853C>T	ENST00000328252.3	+	2	1205	c.836C>T	c.(835-837)aCt>aTt	p.T279I		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	279	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCGCCCACACTGCTCTACCT	0.557000													20	61					0	0	0.002299	0	0
TMX2	51075	broad.mit.edu	37	11	57506652	57506652	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:57506652C>T	ENST00000278422.4	+	7	676	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	TMX2_ENST00000378312.4_Silent_p.L184L|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	222	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TACCCTGATCCTGTTCCAAGG	0.527000													26	68					0	0	0.007291	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138058	72138058	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:72138058C>T	ENST00000555818.1	+	8	2826	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	SIPA1L1_ENST00000537413.1_Silent_p.I301I|SIPA1L1_ENST00000358550.2_Silent_p.I826I|SIPA1L1_ENST00000381232.3_Silent_p.I826I	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	826	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACACCCCTATCGACCCTTCTG	0.517000													12	40					0	0	0.001855	0	0
SDK2	54549	broad.mit.edu	37	17	71357857	71357857	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:71357857C>T	ENST00000392650.3	-	39	5433	c.5433G>A	c.(5431-5433)gaG>gaA	p.E1811E	SDK2_ENST00000388726.3_Silent_p.E1792E|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1811	Fibronectin type-III 12.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTCGATCTCCGGCCCGT	0.637000													12	35					0	0	0.002450	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:20344609C>T	ENST00000298642.2	+	1	219	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGCTTACCA	0.403000													20	197					0	0	0.002780	0	0
KSR1	8844	broad.mit.edu	37	17	25936295	25936295	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:25936295G>A	ENST00000398988.3	+	18	2265	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	KSR1_ENST00000319524.6_Missense_Mutation_p.G744D|KSR1_ENST00000268763.6_Missense_Mutation_p.G607D|KSR1_ENST00000509603.2_Missense_Mutation_p.G722D	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	742					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TATGACAACGGCAAGGTGGTC	0.532000													4	99					0	0	0.001168	0	0
KLKB1	3818	broad.mit.edu	37	4	187158021	187158021	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:187158021A>C	ENST00000264690.6	+	5	602	c.415A>C	c.(415-417)Aaa>Caa	p.K139Q	KLKB1_ENST00000513864.1_Missense_Mutation_p.K139Q	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	139	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AGAATGCCAAAAAAGGTGCAC	0.398000													16	49					0	0	0.004990	0	0
RELN	5649	broad.mit.edu	37	7	103202352	103202352	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:103202352C>T	ENST00000428762.1	-	35	5418	c.5259G>A	c.(5257-5259)ggG>ggA	p.G1753G	RELN_ENST00000343529.5_Silent_p.G1753G|RELN_ENST00000424685.2_Silent_p.G1753G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1753					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGAATCAGCCCCCACAGTGT	0.478000													5	18					0	0	0.001168	0	0
PLOD3	8985	broad.mit.edu	37	7	100856395	100856395	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:100856395G>A	ENST00000223127.3	-	7	1168	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	257					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTTAGTGGGACCGTTTCC	0.602000													8	35					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9085554	9085554	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9085554C>T	ENST00000397910.4	-	1	6464	c.6261G>A	c.(6259-6261)acG>acA	p.T2087T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2087	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAATTCAGTCGTAGTTGAAC	0.478000													43	147					0	0	0.008740	0	0
IGSF1	3547	broad.mit.edu	37	X	130411013	130411013	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:130411013G>A	ENST00000370904.1	-	20	3391	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	IGSF1_ENST00000370910.1_Silent_p.I827I|IGSF1_ENST00000361420.3_Silent_p.I836I|IGSF1_ENST00000370903.3_Silent_p.I841I|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	836	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCGAAATGATTAGAAAGT	0.498000													61	97					0	0	0.003610	0	0
GATC	283459	broad.mit.edu	37	12	120884561	120884561	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:120884561C>T	ENST00000551806.1	+	3	277	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	GATC_ENST00000551765.1_Silent_p.I61I																							AGAAAGCTATCGCCTTCGCCG	0.667000													11	34					0	0	0.000978	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183106	167183106	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:167183106G>A	ENST00000476257.1	-	6	1052	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	SERPINI2_ENST00000471111.1_Missense_Mutation_p.L252F|SERPINI2_ENST00000461846.1_Missense_Mutation_p.L252F|SERPINI2_ENST00000264677.4_Missense_Mutation_p.L252F			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	252					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCTGCAGGAAGTATGATAATT	0.328000													10	98					0	0	0.003163	0	0
TLL1	7092	broad.mit.edu	37	4	166915607	166915607	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:166915607C>T	ENST00000061240.2	+	4	1083	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	TLL1_ENST00000513213.1_Missense_Mutation_p.P146S|TLL1_ENST00000507499.1_Missense_Mutation_p.P146S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	146					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAATCGAGTTCCCAGAGCCGC	0.423000													7	46					0	0	0.001984	0	0
SCN7A	6332	broad.mit.edu	37	2	167297944	167297944	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:167297944G>A	ENST00000409855.1	-	14	2245	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	707					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGTAAAAAGGAATACACCAG	0.393000													10	12					0	0	0.000978	0	0
FFAR2	2867	broad.mit.edu	37	19	35940955	35940955	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:35940955C>T	ENST00000599180.1	+	2	419	c.339C>T	c.(337-339)ttC>ttT	p.F113F	FFAR2_ENST00000246549.2_Silent_p.F113F|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	113						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAGTGGCTTTCCCCGTGCAGT	0.592000													6	31					0	0	0.001168	0	0
ALPL	249	broad.mit.edu	37	1	21887134	21887134	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:21887134C>T	ENST00000374840.3	+	3	327	c.77C>T	c.(76-78)cCc>cTc	p.P26L	ALPL_ENST00000539907.1_5'UTR|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.P26L|ALPL_ENST00000374832.1_Missense_Mutation_p.P26L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	26					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAGAAAGACCCCAAGTACTGG	0.502000													12	57					0	0	0.001368	0	0
POU6F1	5463	broad.mit.edu	37	12	51584083	51584083	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:51584083G>A	ENST00000389243.4	-	11	1792	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	POU6F1_ENST00000550824.1_Missense_Mutation_p.R285W|POU6F1_ENST00000333640.10_Missense_Mutation_p.R285W			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	285					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GTCTGGCGCCGATTGCAGAAC	0.542000													9	41					0	0	0.004482	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293101	49293101	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:49293101G>A	ENST00000559471.1	-	15	2484	c.2221C>T	c.(2221-2223)Cca>Tca	p.P741S	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P696S	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	741										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCACAGTTTGGAGAAATTATA	0.358000													6	41					0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448612	110448612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:110448612C>T	ENST00000378402.5	+	30	3655	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1184	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1186L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGAAAATTCAAAGGTATTA	0.348000										HNSCC(38;0.096)			13	64					0	0	0.001855	0	0
OR2A25	392138	broad.mit.edu	37	7	143771818	143771818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143771818G>A	ENST00000408898.2	+	1	544	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCCTTCTGTGGACCCCAGAAA	0.448000													25	125					0	0	0.006320	0	0
COL4A2	1284	broad.mit.edu	37	13	111132648	111132648	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:111132648G>A	ENST00000360467.5	+	31	2975	c.2669G>A	c.(2668-2670)gGa>gAa	p.G890E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	890	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGTGACAGAGGAGATGCTGGC	0.572000													12	39					0	0	0.001368	0	0
LUZP2	338645	broad.mit.edu	37	11	24998158	24998158	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:24998158G>A	ENST00000533227.1	+	8	573	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	LUZP2_ENST00000336930.6_Missense_Mutation_p.E182K	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	182						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TACTGATCTGGAACAAAAATT	0.358000													10	20					0	0	0.001855	0	0
BEST3	144453	broad.mit.edu	37	12	70049525	70049525	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:70049525G>A	ENST00000330891.5	-	10	1395	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.S284F|BEST3_ENST00000488961.1_Missense_Mutation_p.S177F	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	390						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTTATCATGGAATGCCGATG	0.537000													23	93					0	0	0.006320	0	0
IFRD2	7866	broad.mit.edu	37	3	50326035	50326035	+	Silent	SNP	C	C	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:50326035C>A	ENST00000436390.1	-	13	1628	c.1131G>T	c.(1129-1131)tcG>tcT	p.S377S	IFRD2_ENST00000417626.2_Silent_p.S377S|IFRD2_ENST00000429673.2_Silent_p.S441S|IFRD2_ENST00000336089.4_Silent_p.S543S			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	441							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTGCATGCCCGAACCCAGCA	0.612000													3	19					0.000602214	0.000952615	0.000602	1	0
DNAH7	56171	broad.mit.edu	37	2	196786915	196786915	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:196786915G>A	ENST00000312428.6	-	24	3932	c.3832C>T	c.(3832-3834)Cat>Tat	p.H1278Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1278	Stem (By similarity).				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						GTTTCTAAATGATTTTCCTAG	0.289000													8	22					0	0	0.006214	0	0
C1orf172	126695	broad.mit.edu	37	1	27278613	27278613	+	Missense_Mutation	SNP	G	G	A	rs145915640		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:27278613G>A	ENST00000320567.5	-	2	347	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	87	Cys-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGCAGCCCGGCACCACTCC	0.662000													9	23					0	0	0.004482	0	0
OR10G2	26534	broad.mit.edu	37	14	22102464	22102464	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:22102464C>T	ENST00000542433.1	-	1	632	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAGTAATCCACCTGATTGGGC	0.562000													17	80					0	0	0.008871	0	0
NHLRC3	387921	broad.mit.edu	37	13	39621917	39621917	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:39621917A>T	ENST00000379600.3	+	7	1220	c.898A>T	c.(898-900)Agc>Tgc	p.S300C	NHLRC3_ENST00000470258.1_Missense_Mutation_p.S103C|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S233C	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	300						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTCTGTGATCAGCACAATCCA	0.483000													7	33					0	0	0.001984	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350632	89350632	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:89350632G>A	ENST00000301030.4	-	9	2778	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P773L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	773	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAATTTTGAGGGCCGGTCTTT	0.328000													7	37					0	0	0.001984	0	0
CUBN	8029	broad.mit.edu	37	10	17026170	17026170	+	Nonsense_Mutation	SNP	G	G	A	rs145661597		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:17026170G>A	ENST00000377833.4	-	30	4524	c.4459C>T	c.(4459-4461)Cga>Tga	p.R1487*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1487	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCTTGAATCGAATTGCTAGC	0.498000													17	89					0	0	0.004990	0	0
PRKCDBP	112464	broad.mit.edu	37	11	6340713	6340713	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:6340713C>T	ENST00000303927.3	-	2	636	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.E188K	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	156										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCAGCTGCTCTGGGCCCAGC	0.672000													5	11					0	0	0.000602	0	0
CXCL12	6387	broad.mit.edu	37	10	44880421	44880421	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:44880421G>A	ENST00000374429.2	-	1	119	c.33C>T	c.(31-33)ctC>ctT	p.L11L	CXCL12_ENST00000374426.2_Silent_p.L11L|CXCL12_ENST00000395793.3_Silent_p.L11L|CXCL12_ENST00000496375.1_Intron|CXCL12_ENST00000343575.6_Silent_p.L11L|CXCL12_ENST00000395795.4_Silent_p.L11L|CXCL12_ENST00000395794.2_Silent_p.L11L	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	11					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CGGTCAGCACGAGGACCAGCA	0.776000													5	10					0	0	0.001168	0	0
ZNF527	84503	broad.mit.edu	37	19	37880104	37880104	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:37880104C>T	ENST00000436120.2	+	5	1260	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTGAGAAACCATATGAATG	0.423000													5	23					0	0	0.001168	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216919	4216919	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:4216919G>A	ENST00000600132.1	+	18	2038	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	ANKRD24_ENST00000262970.5_Missense_Mutation_p.G678R|ANKRD24_ENST00000318934.4_Missense_Mutation_p.G588R	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	588										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CGAGGCCACGGGAGCTGAGGC	0.542000													5	11					0	0	0.000602	0	0
CCER1	196477	broad.mit.edu	37	12	91347806	91347806	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:91347806G>A	ENST00000358859.2	-	1	1147	c.714C>T	c.(712-714)ggC>ggT	p.G238G	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.G238G(1)									CCTTGCTGCCGCCAGGGGGCG	0.622000													46	138					0	0	0.003610	0	0
ADAM19	8728	broad.mit.edu	37	5	156940501	156940501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:156940501G>A	ENST00000257527.4	-	8	757	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Nonsense_Mutation_p.R227*|ADAM19_ENST00000394020.1_Nonsense_Mutation_p.R229*	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	227	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTCTCGTCGATTCTTCTGA	0.488000													8	63					0	0	0.004482	0	0
WWC2	80014	broad.mit.edu	37	4	184174999	184174999	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:184174999T>A	ENST00000403733.3	+	9	1242	c.1043T>A	c.(1042-1044)aTt>aAt	p.I348N	WWC2_ENST00000378925.3_Missense_Mutation_p.I250N|WWC2_ENST00000504005.1_Missense_Mutation_p.I30N|WWC2_ENST00000448232.2_Missense_Mutation_p.I348N|WWC2_ENST00000513834.1_Missense_Mutation_p.I348N	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	348										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGATGCTGATTAATGAAAAA	0.418000													5	14					0	0	0.000602	0	0
VCAN	1462	broad.mit.edu	37	5	82817888	82817888	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:82817888A>G	ENST00000265077.3	+	7	4328	c.3763A>G	c.(3763-3765)Aca>Gca	p.T1255A	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T1207A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T1255A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1255	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGAGAATCAACATCTCATGT	0.443000													12	64					0	0	0.001368	0	0
DRD5	1816	broad.mit.edu	37	4	9784903	9784903	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:9784903C>T	ENST00000304374.2	+	1	1646	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	417					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATGCCCAACGCCGTTACCCCC	0.552000													5	38					0	0	0.001168	0	0
OR10K2	391107	broad.mit.edu	37	1	158390164	158390164	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:158390164G>A	ENST00000314902.2	-	1	492	c.493C>T	c.(493-495)Cac>Tac	p.H165Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAAGGCAGGTGAAATACCAAG	0.473000													18	59					0	0	0.008871	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574498	140574498	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140574498C>T	ENST00000239446.4	+	1	2557	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		791					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCCACCTTCCGAAATAGCT	0.403000													12	30					0	0	0.001368	0	0
DNAH11	8701	broad.mit.edu	37	7	21789945	21789945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:21789945G>A	ENST00000328843.6	+	55	8955	c.8924G>A	c.(8923-8925)tGg>tAg	p.W2975*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.W2968*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2975	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAAACTGTTGGAAATTCTTT	0.403000									Kartagener syndrome				5	9					0	0	0.001168	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569342	11569342	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:11569342C>T	ENST00000359227.3	-	4	842	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ELAVL3_ENST00000438662.2_Missense_Mutation_p.E140K	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	140	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCTCCATCTCTTTCTGGCTC	0.617000													18	82					0	0	0.006122	0	0
ASTN1	460	broad.mit.edu	37	1	176915160	176915160	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:176915160C>T	ENST00000367654.2	-	13	2188	c.2175G>A	c.(2173-2175)gaG>gaA	p.E725E	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.E717E|ASTN1_ENST00000424564.2_Silent_p.E717E|ASTN1_ENST00000367657.3_Silent_p.E717E			O14525	ASTN1_HUMAN	astrotactin 1	725					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCATGGGAAGCTCCCTGCTTT	0.532000													23	71					0	0	0.002299	0	0
DENND2A	27147	broad.mit.edu	37	7	140273659	140273659	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:140273659G>A	ENST00000275884.6	-	5	1812	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	DENND2A_ENST00000537639.1_Silent_p.F465F|DENND2A_ENST00000496613.1_Silent_p.F465F|DENND2A_ENST00000492720.1_Silent_p.F465F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	465										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAGGTTAAAGAAAATGTCAT	0.517000													37	196					0	0	0.004878	0	0
SCN11A	11280	broad.mit.edu	37	3	38926851	38926851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:38926851C>T	ENST00000302328.3	-	17	3190	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	SCN11A_ENST00000444237.2_Missense_Mutation_p.D998N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D998N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D960N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	998					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCTGAAGATCAATGGTGCTA	0.433000													12	25					0	0	0.002450	0	0
PCDH15	65217	broad.mit.edu	37	10	55569273	55569273	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:55569273C>T	ENST00000395445.1	-	36	4931	c.4537G>A	c.(4537-4539)Gaa>Aaa	p.E1513K	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.E378K|PCDH15_ENST00000395438.1_Silent_p.L1529L|PCDH15_ENST00000409834.1_Silent_p.L1140L|PCDH15_ENST00000395446.1_Missense_Mutation_p.E709K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E447K|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCTAATTTCAACCTTTGGT	0.403000										HNSCC(58;0.16)			24	137					0	0	0.006320	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232166	50232166	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:50232166G>A	ENST00000333924.4	-	2	908	c.867C>T	c.(865-867)ttC>ttT	p.F289F	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	289							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						ACTGCTTCTGGAAACTTAATC	0.383000													10	61					0	0	0.002450	0	0
IGHG1	3500	broad.mit.edu	37	14	106208121	106208121	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:106208121C>T	ENST00000390548.2	-	0	681																											ACCTGTGGTTCTCGGGGCTGC	0.647000													16	94					0	0	0.004007	0	0
ABCC9	10060	broad.mit.edu	37	12	21995340	21995340	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:21995340C>T	ENST00000261200.4	-	27	3380	c.3381G>A	c.(3379-3381)atG>atA	p.M1127I	ABCC9_ENST00000261201.4_Missense_Mutation_p.M1127I|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.M1091I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1127	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATAAGAAATCATCCCAATGG	0.433000													6	42					0	0	0.004482	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535624	69535624	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:69535624C>T	ENST00000338206.5	-	1	722	c.713G>A	c.(712-714)aGt>aAt	p.S238N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	238					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TAGAACTTCACTATAAAACTG	0.308000													25	110					0	0	0.001786	0	0
FBN3	84467	broad.mit.edu	37	19	8159390	8159390	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:8159390C>T	ENST00000600128.1	-	47	6259	c.5845G>A	c.(5845-5847)Gag>Aag	p.E1949K	FBN3_ENST00000601739.1_Missense_Mutation_p.E1949K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1949K			Q75N90	FBN3_HUMAN	fibrillin 3	1949	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGGAGCCCTCGAGGTTCTGG	0.602000													5	21					0	0	0.001984	0	0
XPO6	23214	broad.mit.edu	37	16	28123301	28123301	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:28123301G>A	ENST00000304658.5	-	17	2678	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	XPO6_ENST00000565698.1_Silent_p.L712L	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	726					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGATGTTAGAGAGGGCTCGGC	0.592000													3	8					0	0	0.000248	0	0
CCNL1	57018	broad.mit.edu	37	3	156867343	156867343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:156867343G>A	ENST00000295926.3	-	9	1182	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	CCNL1_ENST00000461804.1_Missense_Mutation_p.S355F	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	355					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CACATTAATGGAGATTGGTGA	0.383000													14	68					0	0	0.003163	0	0
UMODL1	89766	broad.mit.edu	37	21	43529701	43529701	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:43529701C>T	ENST00000400427.1	+	10	1729	c.1333C>T	c.(1333-1335)Cac>Tac	p.H445Y	UMODL1_ENST00000400424.1_Missense_Mutation_p.H445Y|UMODL1_ENST00000408910.2_Missense_Mutation_p.H517Y|UMODL1_ENST00000408989.2_Missense_Mutation_p.H517Y	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	517	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCGCGGAACACGACTGCTC	0.622000													5	89					0	0	0.000602	0	0
PRMT3	10196	broad.mit.edu	37	11	20414469	20414469	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:20414469C>T	ENST00000331079.6	+	5	541	c.324C>T	c.(322-324)tcC>tcT	p.S108S	PRMT3_ENST00000437750.2_Silent_p.S46S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	108							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACATGAATTCCATATACAACC	0.318000													24	94					0	0	0.003954	0	0
DFFA	1676	broad.mit.edu	37	1	10523174	10523174	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:10523174G>A	ENST00000377038.3	-	5	791	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	DFFA_ENST00000377036.2_Missense_Mutation_p.L242F	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	242					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGTGCAGTAAGGATGTGGCTC	0.562000													8	39					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9072273	9072273	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9072273G>A	ENST00000397910.4	-	3	15376	c.15173C>T	c.(15172-15174)aCc>aTc	p.T5058I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5060	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGGTAAGGTAGAAGAAAT	0.483000													12	58					0	0	0.000978	0	0
GPR50	9248	broad.mit.edu	37	X	150348250	150348250	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:150348250C>T	ENST00000218316.3	+	2	264	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	65					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAACATCTTCGTGGTCA	0.488000													71	131					0	0	0.003610	0	0
SIRPG	55423	broad.mit.edu	37	20	1616113	1616113	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:1616113C>T	ENST00000381580.1	-	4	961	c.782G>A	c.(781-783)aGa>aAa	p.R261K	SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.R294K|SIRPG_ENST00000216927.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	294	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCTGTTTCTCTCTGGCACAC	0.532000													21	122					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179632521	179632521	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:179632521C>T	ENST00000589042.1	-	40	9660	c.9436G>A	c.(9436-9438)Gat>Aat	p.D3146N	TTN_ENST00000591111.1_Missense_Mutation_p.D3146N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3100N|TTN_ENST00000360870.5_Missense_Mutation_p.D3146N|TTN_ENST00000359218.5_Missense_Mutation_p.D3100N|TTN_ENST00000342992.6_Missense_Mutation_p.D3146N|TTN_ENST00000342175.6_Missense_Mutation_p.D3100N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2881							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCGAACATCTCTGCCTTCT	0.418000													25	45					0	0	0.003954	0	0
EPRS	2058	broad.mit.edu	37	1	220162059	220162059	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:220162059G>A	ENST00000366923.3	-	19	2917	c.2648C>T	c.(2647-2649)tCg>tTg	p.S883L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	883	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GCTTGAATCCGAACTTTGAGA	0.428000													26	65					0	0	0.001786	0	0
DSC2	1824	broad.mit.edu	37	18	28648938	28648938	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:28648938C>T	ENST00000280904.6	-	15	2873	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	DSC2_ENST00000251081.6_Silent_p.R810R	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	810					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTGTCCTCCCCTGCAGGAGT	0.562000													21	37					0	0	0.002299	0	0
ZNF418	147686	broad.mit.edu	37	19	58438057	58438057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:58438057G>A	ENST00000396147.1	-	4	1783	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF418_ENST00000599852.1_Missense_Mutation_p.R413C|ZNF418_ENST00000595830.1_Missense_Mutation_p.R498C|ZNF418_ENST00000425570.3_Missense_Mutation_p.R519C|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGATGAACACGAAACCCAGAG	0.458000													19	77					0	0	0.001523	0	0
BICC1	80114	broad.mit.edu	37	10	60549603	60549603	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:60549603C>T	ENST00000373886.3	+	8	961	c.957C>T	c.(955-957)caC>caT	p.H319H		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	319	KH 2.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTCAGATCCACTTTCCTGATC	0.443000													11	67					0	0	0.008291	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038839	17038839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:17038839C>T	ENST00000443236.1	-	25	3522	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCGGTGGCTCGCTCAGACCC	0.617000													19	54					0	0	0.002780	0	0
ATP10D	57205	broad.mit.edu	37	4	47537581	47537581	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:47537581G>A	ENST00000273859.3	+	6	1101	c.832G>A	c.(832-834)Gga>Aga	p.G278R	ATP10D_ENST00000504445.1_Missense_Mutation_p.G278R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	278					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTTGCTTAGAGGATGCACCAT	0.373000													10	50					0	0	0.000978	0	0
ITGB1	3688	broad.mit.edu	37	10	33196014	33196014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:33196014G>A	ENST00000423113.1	-	15	2388	c.2389C>T	c.(2389-2391)Cgt>Tgt	p.R797C	ITGB1_ENST00000302278.3_Intron|ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000374956.4_Intron	NM_033668.2	NP_391988.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	797					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CCAGCTTTACGTCCGTAGTTT	0.328000													24	113					0	0	0.005443	0	0
GCNT3	9245	broad.mit.edu	37	15	59910848	59910848	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:59910848G>A	ENST00000396065.1	+	3	859	c.411G>A	c.(409-411)atG>atA	p.M137I	GCNT3_ENST00000560585.1_Missense_Mutation_p.M137I	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	137					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATACTCTATGGTGATTCATG	0.458000													11	59					0	0	0.001855	0	0
NLRP1	22861	broad.mit.edu	37	17	5461840	5461840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:5461840G>A	ENST00000345221.3	-	4	2730	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	NLRP1_ENST00000262467.5_Missense_Mutation_p.R726W|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.R726W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R726W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R726W|NLRP1_ENST00000572272.1_Missense_Mutation_p.R726W	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	726					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTTTGTTCCGAGTCTCGTAC	0.537000													13	54					0	0	0.001368	0	0
KRT13	3860	broad.mit.edu	37	17	39661582	39661582	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:39661582C>T	ENST00000246635.3	-	1	267	c.221G>A	c.(220-222)gGa>gAa	p.G74E	KRT13_ENST00000587544.1_Missense_Mutation_p.G74E|KRT13_ENST00000336861.3_Missense_Mutation_p.G74E	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	74	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				aaggccacctccatagccacc	0.592000													5	13					0	0	0.000602	0	0
LCP2	3937	broad.mit.edu	37	5	169677790	169677790	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:169677790G>A	ENST00000046794.5	-	20	2038	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	LCP2_ENST00000521416.1_Missense_Mutation_p.R270C|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	475	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTCTGATAACGGATCTGGATG	0.383000													16	64					0	0	0.006122	0	0
CNR2	1269	broad.mit.edu	37	1	24201331	24201331	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:24201331G>A	ENST00000536471.1	-	3	1035	c.777C>T	c.(775-777)ttC>ttT	p.F259F	CNR2_ENST00000374472.4_Silent_p.F259F			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	259					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CCAGCACTGGGAACCAACAGA	0.587000													5	25					0	0	0.000602	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724791	13724791	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:13724791C>T	ENST00000279593.3	-	10	2327	c.2118G>A	c.(2116-2118)atG>atA	p.M706I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	706					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.M706I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAACTTTCCCATGTAGGCAT	0.478000													17	100					0	0	0.004990	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137440	40137440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:40137440G>A	ENST00000278198.2	-	2	2366	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R135C|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R135C|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R135C			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	135					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTAGTAAGACGATTGTCAAAG	0.433000													6	34					0	0	0.001984	0	0
VAC14	55697	broad.mit.edu	37	16	70765459	70765459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:70765459G>A	ENST00000261776.5	-	14	1860	c.1600C>T	c.(1600-1602)Ctt>Ttt	p.L534F		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	534					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CTCTTGAGAAGGTTGATCATG	0.488000													16	59					0	0	0.003163	0	0
PTPRD	5789	broad.mit.edu	37	9	8521304	8521304	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:8521304C>T	ENST00000381196.4	-	17	1477	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PTPRD_ENST00000397617.3_Missense_Mutation_p.E302K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E309K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E312K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E309K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E312K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E299K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E312K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E312K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E299K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E302K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	312	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTATTGCTTCAATGACACCC	0.418000										TSP Lung(15;0.13)			9	34					0	0	0.006214	0	0
CXorf22	170063	broad.mit.edu	37	X	35959408	35959408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:35959408C>T	ENST00000297866.5	+	3	476	c.410C>T	c.(409-411)cCa>cTa	p.P137L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	137										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGTTGATTCCATCCTGTCAA	0.348000													11	17					0	0	0.000978	0	0
ADCY8	114	broad.mit.edu	37	8	131896878	131896878	+	Missense_Mutation	SNP	C	C	T	rs145360233		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:131896878C>T	ENST00000286355.5	-	8	4133	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	ADCY8_ENST00000377928.3_Missense_Mutation_p.D681N	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	681					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.D681N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCAATTTATCGCCACTCCGC	0.463000										HNSCC(32;0.087)			49	77					0	0	0.003610	0	0
ADCY5	111	broad.mit.edu	37	3	123009975	123009975	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:123009975G>A	ENST00000462833.1	-	18	4524	c.3312C>T	c.(3310-3312)atC>atT	p.I1104I	ADCY5_ENST00000491190.1_Silent_p.I762I|ADCY5_ENST00000309879.5_Silent_p.I754I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1104	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAAGTCAGCGATGATCTCAT	0.592000													5	18					0	0	0.000602	0	0
TENM1	10178	broad.mit.edu	37	X	124029836	124029836	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:124029836C>T	ENST00000422452.2	-	2	535	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	TENM1_ENST00000371130.3_Missense_Mutation_p.E158K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTACCATTTTCCCCATCAGAC	0.408000													19	41					0	0	0.007413	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952165	96952165	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:96952165G>A	ENST00000323853.5	-	29	3964	c.3887C>T	c.(3886-3888)cCc>cTc	p.P1296L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1296						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTTGGAGGGGGGTACTTCTC	0.498000													14	67					0	0	0.002450	0	0
IRX5	10265	broad.mit.edu	37	16	54967405	54967405	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:54967405C>T	ENST00000394636.4	+	3	1409	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	IRX5_ENST00000558597.1_Missense_Mutation_p.P292S|IRX5_ENST00000560154.1_Missense_Mutation_p.P138S|IRX5_ENST00000320990.5_Missense_Mutation_p.P357S			P78411	IRX5_HUMAN	iroquois homeobox 5	358					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CGAGGGCTCTCCATGCCCACC	0.716000													5	20					0	0	0.003080	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448866	99448866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:99448866C>T	ENST00000397899.2	-	5	816	c.485G>A	c.(484-486)aGg>aAg	p.R162K	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		TGGGGGGCTCCTGGGCAGCCC	0.622000													17	56					0	0	0.004007	0	0
GNB5	10681	broad.mit.edu	37	15	52416676	52416676	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:52416676G>A	ENST00000261837.7	-	12	1235	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Silent_p.T278T|GNB5_ENST00000358784.7_Silent_p.T348T	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	390						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TTACTCTGAGGGTATGATCCC	0.522000													12	33					0	0	0.000978	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586959	15586959	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:15586959C>T	ENST00000292609.4	-	2	651	c.522G>A	c.(520-522)agG>agA	p.R174R	PGLYRP2_ENST00000340880.4_Silent_p.R174R			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	174					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GAGAGCCATCCCTGAGTCCTG	0.542000													18	81					0	0	0.004990	0	0
ASPM	259266	broad.mit.edu	37	1	197073833	197073833	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:197073833G>A	ENST00000367409.4	-	18	4804	c.4548C>T	c.(4546-4548)acC>acT	p.T1516T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1516					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTTCTGGATGGTTAGTATGG	0.348000													10	66					0	0	0.001855	0	0
LRRC7	57554	broad.mit.edu	37	1	70477588	70477588	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:70477588C>T	ENST00000310961.5	+	13	1432	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	LRRC7_ENST00000035383.5_Silent_p.F333F|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	333						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGAGAATTTCCTTCCAGAAT	0.328000													4	32					0	0	0.000248	0	0
PSG6	5675	broad.mit.edu	37	19	43411845	43411845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:43411845C>T	ENST00000187910.2	-	4	933	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.E290K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATCCTGTTTTCAATGGGTCGC	0.493000													40	167					0	0	0.002222	0	0
PSG9	5678	broad.mit.edu	37	19	43762435	43762435	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:43762435G>A	ENST00000244293.7	-	4	949	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	PSG9_ENST00000418820.2_Missense_Mutation_p.H295Y|PSG9_ENST00000291752.5_Missense_Mutation_p.H202Y|PSG9_ENST00000596730.1_Missense_Mutation_p.H202Y|PSG9_ENST00000270077.3_Missense_Mutation_p.H388Y|PSG9_ENST00000593948.1_Missense_Mutation_p.H295Y|PSG9_ENST00000443718.3_Missense_Mutation_p.H295Y			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	304	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGCCCGCTATGATTTCTAGTA	0.443000													37	49					0	0	0.006230	0	0
TAOK1	57551	broad.mit.edu	37	17	27825354	27825354	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:27825354G>T	ENST00000261716.3	+	12	1537	c.1018G>T	c.(1018-1020)Ggc>Tgc	p.G340C	TAOK1_ENST00000536202.1_Missense_Mutation_p.G340C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	340					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TCATGGTGTTGGCCGGACAGG	0.403000													13	65					2.32078e-09	3.70034e-09	0.003163	1	0
OSBPL11	114885	broad.mit.edu	37	3	125249392	125249392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:125249392C>T	ENST00000296220.5	-	13	2500	c.2211G>A	c.(2209-2211)tgG>tgA	p.W737*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	737					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GAATTATTTTCCAAAGTGGTT	0.358000													11	33					0	0	0.001855	0	0
FCRL1	115350	broad.mit.edu	37	1	157765931	157765931	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:157765931C>T	ENST00000368176.3	-	11	1315	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	FCRL1_ENST00000358292.3_3'UTR|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.R415R	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	416						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTTGCTTTCCTCAGCCTGG	0.468000													11	37					0	0	0.001368	0	0
MXRA5	25878	broad.mit.edu	37	X	3242438	3242438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:3242438C>T	ENST00000217939.6	-	5	1442	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	430						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGACCCATTCTGGTTCTGCA	0.498000													23	40					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179414910	179414910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:179414910C>T	ENST00000589042.1	-	337	91879	c.91655G>A	c.(91654-91656)gGa>gAa	p.G30552E	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28911E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21487E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21612E|TTN_ENST00000342992.6_Missense_Mutation_p.G27984E|TTN_ENST00000342175.6_Missense_Mutation_p.G21679E|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28911	Fibronectin type-III 122.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGTCTTCCTTGTACCAA	0.408000													69	95					0	0	0.003610	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057818	63057818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:63057818G>A	ENST00000332793.6	+	1	183	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.G9S	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	61						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TACTGGATCTGGTAATGAAAC	0.458000													16	76					0	0	0.003163	0	0
KIF4B	285643	broad.mit.edu	37	5	154396033	154396033	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:154396033G>A	ENST00000435029.4	+	1	2774	c.2614G>A	c.(2614-2616)Gga>Aga	p.G872R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	872	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATATTTGATTGGAGAGCTGGT	0.468000													6	28					0	0	0.001984	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975883	76975883	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:76975883A>G	ENST00000409911.1	-	3	1937	c.1714T>C	c.(1714-1716)Ttc>Ctc	p.F572L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.F571L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.F571L	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	571						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTGGCGATGAAGCTGTGGTCT	0.617000													28	130					0	0	0.002445	0	0
A4GNT	51146	broad.mit.edu	37	3	137843166	137843166	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:137843166C>T	ENST00000236709.3	-	3	1164	c.963G>A	c.(961-963)agG>agA	p.R321R		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	321					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TAATCAGGTCCCTGTAAGTCC	0.517000													99	326					0	0	0.003610	0	0
MISP	126353	broad.mit.edu	37	19	763512	763512	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:763512C>T	ENST00000215582.6	+	5	2065	c.1962C>T	c.(1960-1962)gcC>gcT	p.A654A		NM_173481.2	NP_775752.1			mitotic spindle positioning																		TCCTGGAAGCCATACGGGTGA	0.592000													3	20					0	0	0.004672	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235773	1235773	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:1235773G>A	ENST00000324642.3	+	4	740	c.617G>A	c.(616-618)gGg>gAg	p.G206E	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206E	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGACTACAGGGAAGGTGAGA	0.567000													13	73					0	0	0.001855	0	0
HYDIN	54768	broad.mit.edu	37	16	71007790	71007790	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:71007790G>A	ENST00000393567.2	-	34	5321	c.5171C>T	c.(5170-5172)tCc>tTc	p.S1724F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1724										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGATGATTGGAAAGCTGAAT	0.493000													9	81					0	0	0.006214	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3593961	3593961	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:3593961G>A	ENST00000550383.1	-	4	562	c.374C>T	c.(373-375)cCt>cTt	p.P125L	P2RX5_ENST00000345901.3_Missense_Mutation_p.P101L|P2RX5_ENST00000435558.1_Missense_Mutation_p.P125L|P2RX5_ENST00000552276.1_Missense_Mutation_p.P125L|P2RX5_ENST00000552050.1_Missense_Mutation_p.P65L|P2RX5_ENST00000551178.1_Missense_Mutation_p.P101L|P2RX5_ENST00000547178.1_Missense_Mutation_p.P125L|P2RX5_ENST00000225328.5_Missense_Mutation_p.P125L																							CGCGCCATCAGGAATGCCTTC	0.632000													8	41					0	0	0.004482	0	0
PDE4C	5143	broad.mit.edu	37	19	18332977	18332977	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:18332977C>T	ENST00000355502.3	-	6	1270	c.399G>A	c.(397-399)aaG>aaA	p.K133K	PDE4C_ENST00000594465.2_Silent_p.K133K|PDE4C_ENST00000447275.2_Silent_p.K27K|PDE4C_ENST00000594617.2_Silent_p.K133K|PDE4C_ENST00000262805.11_Silent_p.K101K			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	133					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGACATGGCCTTGGGCGAGA	0.617000													4	15					0	0	0.000602	0	0
POM121C	100101267	broad.mit.edu	37	7	75048176	75048176	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:75048176C>T	ENST00000453279.2	-	15	3731	c.2866_splice	c.e15-1	p.G956_splice	POM121C_ENST00000257665.5_Splice_Site_p.G1198_splice	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1198	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGCCGCCGATCCTGGAAAGAT	0.572000													8	18					0	0	0.000978	0	0
BCAT1	586	broad.mit.edu	37	12	25002810	25002810	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:25002810G>A	ENST00000261192.7	-	6	1110	c.584C>T	c.(583-585)tCa>tTa	p.S195L	BCAT1_ENST00000539780.1_Missense_Mutation_p.S158L|BCAT1_ENST00000538118.1_Missense_Mutation_p.S194L|BCAT1_ENST00000342945.5_Missense_Mutation_p.S134L|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.S207L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	195					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGTTCCACTTGAAAAATAAGG	0.473000													16	63					0	0	0.004007	0	0
VWA3B	200403	broad.mit.edu	37	2	98851193	98851193	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:98851193C>T	ENST00000477737.1	+	17	2595	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	797										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGGCCTCTCCAATGCCAGCA	0.532000													8	40					0	0	0.003080	0	0
FGB	2244	broad.mit.edu	37	4	155490686	155490686	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:155490686G>A	ENST00000302068.4	+	7	1042	c.979G>A	c.(979-981)Gat>Aat	p.D327N	FGB_ENST00000509493.1_Missense_Mutation_p.D108N|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	327	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCTTGGAAATGATAAAATTAG	0.358000													15	56					0	0	0.003163	0	0
NFATC2	4773	broad.mit.edu	37	20	50139727	50139727	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:50139727G>A	ENST00000371564.3	-	2	1272	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	NFATC2_ENST00000414705.1_Silent_p.F331F|NFATC2_ENST00000396009.3_Silent_p.F351F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	351					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGGCCCCAGGAACTCCACGG	0.677000													19	108					0	0	0.006122	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872897	57872897	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:57872897G>A	ENST00000393797.2	-	5	698	c.506C>T	c.(505-507)cCc>cTc	p.P169L	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P98L|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P98L|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P177L|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P98L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	98					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAATTGGCCGGGGATGACGGT	0.557000													17	79					0	0	0.001523	0	0
TOX2	84969	broad.mit.edu	37	20	42694734	42694734	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:42694734C>T	ENST00000358131.5	+	6	1497	c.1289C>T	c.(1288-1290)cCt>cTt	p.P430L	TOX2_ENST00000423191.1_Missense_Mutation_p.P406L|TOX2_ENST00000372999.1_Missense_Mutation_p.P406L|TOX2_ENST00000341197.3_Missense_Mutation_p.P448L|TOX2_ENST00000435864.2_Missense_Mutation_p.P326L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	430	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCCCTCACCTCCAGGGCCA	0.657000													3	8					0	0	0.004672	0	0
PROM2	150696	broad.mit.edu	37	2	95942371	95942371	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:95942371C>T	ENST00000317620.9	+	5	781	c.648C>T	c.(646-648)tcC>tcT	p.S216S	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Silent_p.S216S|PROM2_ENST00000403131.2_Silent_p.S216S|PROM2_ENST00000317668.4_Silent_p.S216S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	216						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCAATTCTCCCTGCCCCAGG	0.657000													9	38					0	0	0.004482	0	0
FLNC	2318	broad.mit.edu	37	7	128494692	128494692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:128494692G>A	ENST00000325888.8	+	41	7214	c.6953G>A	c.(6952-6954)cGg>cAg	p.R2318Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R2285Q|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2318					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACAAGGTGCGGGCCGGAGGC	0.687000													6	24					0	0	0.001168	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202108	140202108	+	Silent	SNP	T	T	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140202108T>C	ENST00000529859.1	+	1	748	c.748T>C	c.(748-750)Ttg>Ctg	p.L250L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.L250L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.L250L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGTCAGATTGTTGGAAAA	0.363000													10	46					0	0	0.008291	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382492	41382492	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:41382492T>C	ENST00000377801.3	-	2	322	c.248A>G	c.(247-249)aAt>aGt	p.N83S	PLCXD3_ENST00000328457.3_Missense_Mutation_p.N83S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	83	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCAGTAAAATTCATTGTCTG	0.453000													8	48					0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	95001366	95001366	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:95001366G>A	ENST00000357742.4	+	19	2251	c.2250_splice	c.e19-1	p.E751_splice	MCTP2_ENST00000451018.3_Splice_Site_p.E696_splice	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	751					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGTTTTCTAGGAATCTGAGAA	0.299000													4	41					0	0	0.000602	0	0
LRP4	4038	broad.mit.edu	37	11	46900680	46900680	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:46900680G>A	ENST00000378623.1	-	21	3243	c.3001C>T	c.(3001-3003)Cca>Tca	p.P1001S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1001					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCTCACCTGGGGGCCGGCGG	0.612000													19	146					0	0	0.001523	0	0
SLC7A10	56301	broad.mit.edu	37	19	33701437	33701437	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:33701437C>T	ENST00000253188.3	-	9	1345	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	400					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GATGGTGACGCCGTAGCAGAG	0.647000													8	25					0	0	0.003080	0	0
FBXO39	162517	broad.mit.edu	37	17	6683581	6683581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:6683581C>T	ENST00000321535.4	+	2	524	c.394C>T	c.(394-396)Caa>Taa	p.Q132*		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	132										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCTTTCCATCCAATACCTGGA	0.502000													8	45					0	0	0.003080	0	0
CNST	163882	broad.mit.edu	37	1	246810637	246810637	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:246810637C>T	ENST00000366513.4	+	9	1403	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.S378S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	378					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CCCAGTCCTCCGAGACAGCAG	0.587000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	84					0	0	0.002299	0	0
CCNB2	9133	broad.mit.edu	37	15	59408902	59408902	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:59408902C>T	ENST00000288207.2	+	6	802	c.611C>T	c.(610-612)tCc>tTc	p.S204F	CCNB2_ENST00000559622.1_Missense_Mutation_p.S123F	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	204					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						CAGCCAGTTTCCCGGAAGAAG	0.408000													8	36					0	0	0.006214	0	0
ANKRD2	26287	broad.mit.edu	37	10	99332524	99332524	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:99332524C>T	ENST00000307518.5	+	1	327	c.60C>T	c.(58-60)gcC>gcT	p.A20A	ANKRD2_ENST00000298808.5_Silent_p.A20A|ANKRD2_ENST00000370655.1_5'UTR			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	20					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCCCCGAGGCCCTGTGGCCTG	0.672000											OREG0020418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7					0	0	0.000602	0	0
HDAC9	9734	broad.mit.edu	37	7	18688106	18688106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:18688106C>T	ENST00000406451.3	+	11	1408	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	HDAC9_ENST00000432645.2_Missense_Mutation_p.P420S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P420S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P379S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P392S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P343S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P418S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P376S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P423S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P407S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	420					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCCTTACATCCTCAGTCTCC	0.438000													17	62					0	0	0.004007	0	0
GPR26	2849	broad.mit.edu	37	10	125434339	125434339	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:125434339G>A	ENST00000284674.1	+	2	727	c.674G>A	c.(673-675)cGg>cAg	p.R225Q		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	225					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGCAGTGTGCGGGAACGCTGT	0.552000													7	26					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13911557	13911557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:13911557G>A	ENST00000265104.4	-	12	1686	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	528	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTCCGCTGGTCTAGGAAA	0.328000									Kartagener syndrome				13	55					0	0	0.004007	0	0
ATP2A3	489	broad.mit.edu	37	17	3839605	3839605	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:3839605G>A	ENST00000309890.7	-	16	2630	c.2480C>T	c.(2479-2481)gCc>gTc	p.A827V	ATP2A3_ENST00000397035.3_Missense_Mutation_p.A827V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A827V|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A827V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A827V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A827V|ATP2A3_ENST00000397039.1_Missense_Mutation_p.A11V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	827					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACTGATGAGGGCTTCTCGGGG	0.607000													13	59					0	0	0.002450	0	0
PWP2	5822	broad.mit.edu	37	21	45548478	45548478	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:45548478C>T	ENST00000291576.7	+	20	2683	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	852						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGAAGAGCATCCAGCGGCACC	0.642000													10	22					0	0	0.002450	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209767	65209767	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:65209767C>T	ENST00000247226.7	+	15	3146	c.2838C>T	c.(2836-2838)ccC>ccT	p.P946P	PLEKHG3_ENST00000471182.2_Silent_p.P535P|PLEKHG3_ENST00000394691.1_Silent_p.P1002P|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.P507P	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1002					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACAGCCCTCCCAAGCCCTCCT	0.617000													32	89					0	0	0.001786	0	0
LRP4	4038	broad.mit.edu	37	11	46900681	46900681	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:46900681G>A	ENST00000378623.1	-	21	3242	c.3000C>T	c.(2998-3000)ccC>ccT	p.P1000P		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1000					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTCACCTGGGGGCCGGCGGC	0.612000													18	147					0	0	0.008871	0	0
LILRB5	10990	broad.mit.edu	37	19	54756349	54756349	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:54756349C>T	ENST00000450632.1	-	10	1588	c.1511_splice	c.e10+1	p.R504_splice	LILRB5_ENST00000316219.5_Splice_Site_p.R512_splice|LILRB5_ENST00000345866.6_Splice_Site_p.R413_splice|LILRB5_ENST00000449561.2_Splice_Site_p.R513_splice			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	512					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGAATTACCTCTTCTGCAG	0.632000													20	67					0	0	0.008871	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927207	111927207	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:111927207G>A	ENST00000305815.5	-	16	2056	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554C	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	602	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGGCATATACGAAAAAAGAAG	0.269000													10	63					0	0	0.008291	0	0
OR2A5	393046	broad.mit.edu	37	7	143747855	143747855	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143747855G>A	ENST00000408906.2	+	1	395	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GATGTCCTACGATCGGTACAT	0.468000													69	113					0	0	0.003610	0	0
FLRT2	23768	broad.mit.edu	37	14	86088162	86088162	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:86088162G>A	ENST00000330753.4	+	2	1071	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E102K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	102					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.E102K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCAACTGGACGAATTCCCCAT	0.468000													15	64					0	0	0.003163	0	0
EVC2	132884	broad.mit.edu	37	4	5667321	5667321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:5667321G>A	ENST00000310917.2	-	8	1417	c.686C>T	c.(685-687)tCc>tTc	p.S229F	EVC2_ENST00000344408.5_Missense_Mutation_p.S309F|EVC2_ENST00000344938.1_Missense_Mutation_p.S309F	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	309						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGCACAAGGGAGAGGAGGAA	0.577000													8	33					0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26219542	26219542	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:26219542G>A	ENST00000335473.7	+	13	2842	c.2592G>A	c.(2590-2592)gaG>gaA	p.E864E	MYO18B_ENST00000407587.2_Silent_p.E864E|MYO18B_ENST00000536101.1_Silent_p.E864E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	864	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCGAGTATGAGGAGCTGAACA	0.572000													24	100					0	0	0.003954	0	0
FLG2	388698	broad.mit.edu	37	1	152326903	152326903	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:152326903G>A	ENST00000388718.5	-	3	3431	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1120	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCCGATCCATATTG	0.507000													43	160					0	0	0.003610	0	0
PLK1	5347	broad.mit.edu	37	16	23700596	23700596	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:23700596C>T	ENST00000300093.4	+	8	1419	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	436	POLO box 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GGGTGCTCTTCAATGACTCAA	0.557000													11	54					0	0	0.001368	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510220	41510220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:41510220G>A	ENST00000324071.4	+	3	360	c.353G>A	c.(352-354)gGa>gAa	p.G118E	CYP2B6_ENST00000593831.1_Missense_Mutation_p.G42E|CYP2B6_ENST00000330446.5_Missense_Mutation_p.G78E|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	118					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)	TTTGCCAATGGAAACCGCTGG	0.552000													9	22					0	0	0.006214	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994720	45994720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:45994720C>T	ENST00000400374.3	+	1	1115	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	362	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTCCGTGTCCCTCCTCTGC	0.677000													26	73					0	0	0.006320	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515444	140515444	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140515444C>T	ENST00000231134.5	+	1	645	c.428C>T	c.(427-429)cCa>cTa	p.P143L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P143Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAAAAATCCCAGAGAGCACC	0.443000													17	68					0	0	0.004990	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569967	47569967	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:47569967C>T	ENST00000253048.5	-	15	3595	c.3558G>A	c.(3556-3558)aaG>aaA	p.K1186K	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1186							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACGGGGGCTCCTTAGCCTTGG	0.657000													3	15					0	0	0.004672	0	0
RARG	5916	broad.mit.edu	37	12	53608014	53608014	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:53608014G>A	ENST00000425354.2	-	7	1129	c.642C>T	c.(640-642)tcC>tcT	p.S214S	RARG_ENST00000327550.3_Silent_p.S142S|RARG_ENST00000338561.5_Silent_p.S203S|RARG_ENST00000394426.1_Silent_p.S214S|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Silent_p.S192S	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	214	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTCTGCACTGGAGTTCTGCA	0.572000													5	51					0	0	0.000602	0	0
PDE10A	10846	broad.mit.edu	37	6	165863797	165863797	+	Silent	SNP	T	T	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:165863797T>C	ENST00000366882.1	-	5	403	c.249A>G	c.(247-249)gaA>gaG	p.E83E	PDE10A_ENST00000354448.4_Silent_p.E83E|PDE10A_ENST00000539869.2_Silent_p.E93E			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	83					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.E83D(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCAACCGTTGTTCTATATAGC	0.328000													10	33					0	0	0.001368	0	0
AKAP6	9472	broad.mit.edu	37	14	33201765	33201765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:33201765G>A	ENST00000280979.4	+	10	3276	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	AKAP6_ENST00000557354.1_Missense_Mutation_p.E1036K|AKAP6_ENST00000557272.1_Missense_Mutation_p.E1036K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1036					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGATCTCCTTGAAAAAGTGGA	0.373000													18	71					0	0	0.006122	0	0
DAB2	1601	broad.mit.edu	37	5	39394359	39394359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:39394359C>T	ENST00000320816.6	-	2	531	c.64G>A	c.(64-66)Gca>Aca	p.A22T	DAB2_ENST00000509337.1_Missense_Mutation_p.A22T|DAB2_ENST00000339788.6_Missense_Mutation_p.A22T|DAB2_ENST00000545653.1_Missense_Mutation_p.A22T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	22					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTTGAGGGTGCTTTTGGTGCG	0.483000													10	48					0	0	0.008291	0	0
RARS	5917	broad.mit.edu	37	5	167919739	167919739	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:167919739C>T	ENST00000231572.3	+	3	310	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	86					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGTCTTTGGTCATGCAATTAA	0.408000													16	70					0	0	0.004007	0	0
PDE1C	5137	broad.mit.edu	37	7	32109934	32109934	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:32109934G>A	ENST00000396184.3	-	2	276	c.72C>T	c.(70-72)atC>atT	p.I24I	PDE1C_ENST00000396182.2_Silent_p.I24I|PDE1C_ENST00000396191.1_Silent_p.I24I|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Silent_p.I24I	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	24					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGATTTTCTCGATCTGTTCCG	0.512000													9	74					0	0	0.008291	0	0
MECOM	2122	broad.mit.edu	37	3	168834004	168834004	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:168834004C>T	ENST00000464456.1	-	7	2292	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	MECOM_ENST00000472280.1_Silent_p.G365G|MECOM_ENST00000392736.3_Silent_p.G364G|MECOM_ENST00000433243.2_Silent_p.G365G|MECOM_ENST00000494292.1_Silent_p.G552G|MECOM_ENST00000468789.1_Silent_p.G364G|MECOM_ENST00000460814.1_Silent_p.G364G|MECOM_ENST00000264674.3_Silent_p.G429G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCTTATTGTCCCCTACAGATG	0.473000													7	37					0	0	0.001984	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399777	89399777	+	RNA	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:89399777G>A	ENST00000479981.1	-	0	77																											CCTTACCTGGGAAACAGAGCA	0.493000													5	46					0	0	0.001984	0	0
S100A9	6280	broad.mit.edu	37	1	153330865	153330865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:153330865G>A	ENST00000368738.3	+	2	149	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	36	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACCAGGGGGAATTCAAAGA	0.517000													4	32					0	0	0.000602	0	0
GDA	9615	broad.mit.edu	37	9	74828889	74828889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:74828889C>T	ENST00000358399.3	+	5	653	c.560C>T	c.(559-561)tCg>tTg	p.S187L	GDA_ENST00000376989.3_Missense_Mutation_p.S162L|GDA_ENST00000545168.1_Missense_Mutation_p.S113L|GDA_ENST00000238018.4_Missense_Mutation_p.S187L|GDA_ENST00000376986.1_Missense_Mutation_p.S145L|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	187					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACTGAGGAATCGATCAAGGAA	0.413000													3	10					0	0	0.004672	0	0
ACSS3	79611	broad.mit.edu	37	12	81533033	81533033	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:81533033C>T	ENST00000548058.1	+	4	1679	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	ACSS3_ENST00000261206.3_Missense_Mutation_p.R256C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	257						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATTTATAATCGTCCAAATAT	0.328000													5	29					0	0	0.001168	0	0
COX18	285521	broad.mit.edu	37	4	73930991	73930991	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:73930991T>C	ENST00000295890.4	-	3	665	c.574A>G	c.(574-576)Agc>Ggc	p.S192G	COX18_ENST00000507544.2_Missense_Mutation_p.S192G	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	192					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCCCGTGCTTAAATTCCGG	0.378000													11	35					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179569401	179569401	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:179569401G>A	ENST00000589042.1	-	105	30022	c.29798C>T	c.(29797-29799)tCg>tTg	p.S9933L	TTN_ENST00000591111.1_Missense_Mutation_p.S9616L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8689L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9616	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8689L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTACCACGAAAGCTTGAT	0.338000													11	22					0	0	0.008291	0	0
MPP7	143098	broad.mit.edu	37	10	28408587	28408587	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:28408587C>T	ENST00000337532.5	-	12	1221	c.945G>A	c.(943-945)agG>agA	p.R315R	MPP7_ENST00000375719.3_Silent_p.R315R|MPP7_ENST00000445954.2_Silent_p.R190R|MPP7_ENST00000540098.1_Silent_p.R315R|MPP7_ENST00000375732.1_Silent_p.R315R	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	315					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TACATGATTTCCTGTTGGAAA	0.398000													24	88					0	0	0.007291	0	0
AURKB	9212	broad.mit.edu	37	17	8110589	8110589	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:8110589G>A	ENST00000316199.6	-	5	383	c.306C>T	c.(304-306)ttC>ttT	p.F102F	AURKB_ENST00000578549.1_Intron|AURKB_ENST00000534871.1_Silent_p.F60F|AURKB_ENST00000535053.1_Silent_p.F102F|AURKB_ENST00000585124.1_Silent_p.F101F			Q96GD4	AURKB_HUMAN	aurora kinase B	101	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						GCGCCACGATGAAATGGCTTT	0.537000													11	19					0	0	0.008291	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703819	33703819	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:33703819G>A	ENST00000253188.3	-	3	592	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	149					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GGGGAACACGGGCTGCAGCAC	0.617000													9	49					0	0	0.004482	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260065	44260065	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:44260065G>A	ENST00000315087.7	-	7	1731	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.F326F|ST8SIA5_ENST00000538168.1_Silent_p.F393F	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	357					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCAAGTGCAGGAAGTTGAAGA	0.642000													17	49					0	0	0.006122	0	0
KL	9365	broad.mit.edu	37	13	33628169	33628169	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:33628169G>A	ENST00000380099.3	+	2	1093	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	KL_ENST00000426690.2_Missense_Mutation_p.G55E|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	362	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCATCAAAGGAACTGCTGAC	0.413000													24	84					0	0	0.005443	0	0
MARCH11	441061	broad.mit.edu	37	5	16067884	16067884	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:16067884C>T	ENST00000332432.8	-	4	1104	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	302						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACTGCAGCTCCTTCATGAAC	0.403000													6	25					0	0	0.001168	0	0
HK1	3098	broad.mit.edu	37	10	71103614	71103614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:71103614C>T	ENST00000448642.2	+	7	589	c.200C>T	c.(199-201)tCc>tTc	p.S67F	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.S31F|HK1_ENST00000404387.2_Missense_Mutation_p.S36F|HK1_ENST00000360289.2_Missense_Mutation_p.S20F|HK1_ENST00000359426.6_Missense_Mutation_p.S32F			P19367	HXK1_HUMAN	hexokinase 1	32	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGCGGCTCTCCGATGAAACT	0.527000													22	88					0	0	0.002299	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891723	18891723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:18891723G>A	ENST00000317658.3	+	1	679	c.521G>A	c.(520-522)tGg>tAg	p.W174*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	174					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAATCTAAATGGATTTTCCAA	0.383000													6	40					0	0	0.003080	0	0
FBXO36	130888	broad.mit.edu	37	2	230875489	230875489	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:230875489G>A	ENST00000373652.3	+	5	784	c.363G>A	c.(361-363)ctG>ctA	p.L121L	FBXO36_ENST00000409992.1_Silent_p.L132L|FBXO36_ENST00000283946.3_Silent_p.L152L			Q8NEA4	FBX36_HUMAN	F-box protein 36	152	F-box.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGAGGGCCCTGGCGGAGGACA	0.542000													10	18					0	0	0.008291	0	0
CABP4	57010	broad.mit.edu	37	11	67223027	67223027	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:67223027G>A	ENST00000325656.5	+	1	210	c.133G>A	c.(133-135)Gag>Aag	p.E45K	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	45					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGCAAGAAGGAGAGGGGGCT	0.647000													7	12					0	0	0.003080	0	0
ATP2A3	489	broad.mit.edu	37	17	3839604	3839604	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:3839604G>A	ENST00000309890.7	-	16	2631	c.2481C>T	c.(2479-2481)gcC>gcT	p.A827A	ATP2A3_ENST00000397035.3_Silent_p.A827A|ATP2A3_ENST00000397041.3_Silent_p.A827A|ATP2A3_ENST00000397043.3_Silent_p.A827A|ATP2A3_ENST00000359983.3_Silent_p.A827A|ATP2A3_ENST00000352011.3_Silent_p.A827A|ATP2A3_ENST00000397039.1_Silent_p.A11A	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	827					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CACTGATGAGGGCTTCTCGGG	0.607000													13	58					0	0	0.002450	0	0
CHP2	63928	broad.mit.edu	37	16	23768611	23768611	+	Silent	SNP	G	G	A	rs150633217	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:23768611G>A	ENST00000300113.2	+	6	927	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	168	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		ATGAAGATGGGGATGGGGCTG	0.567000													4	27					0	0	0.000248	0	0
ITGB1	3688	broad.mit.edu	37	10	33196015	33196015	+	Silent	SNP	T	T	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:33196015T>A	ENST00000423113.1	-	15	2387	c.2388A>T	c.(2386-2388)ggA>ggT	p.G796G	ITGB1_ENST00000302278.3_Intron|ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000374956.4_Intron	NM_033668.2	NP_391988.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	796					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CAGCTTTACGTCCGTAGTTTG	0.328000													23	111					0	0	0.004656	0	0
ZNF831	128611	broad.mit.edu	37	20	57829131	57829131	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:57829131C>T	ENST00000371030.2	+	5	4367	c.4367C>T	c.(4366-4368)tCa>tTa	p.S1456L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1456						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCAGGATTCAGTCTCAACA	0.522000													13	40					0	0	0.001368	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	47					0	0	0.007413	0	0
CD1A	909	broad.mit.edu	37	1	158225065	158225065	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:158225065G>A	ENST00000289429.5	+	2	783	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	84					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAAGGAACTGGAAACATTATT	0.468000													9	45					0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61829367	61829367	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:61829367C>T	ENST00000280772.1	-	37	11463	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3758					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTATAGTTTCATTTTCTAAT	0.378000													24	118					0	0	0.002780	0	0
UNC79	57578	broad.mit.edu	37	14	94069615	94069615	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:94069615A>G	ENST00000553484.1	+	26	3759	c.3605A>G	c.(3604-3606)aAc>aGc	p.N1202S	UNC79_ENST00000555664.1_Missense_Mutation_p.N1202S|UNC79_ENST00000393151.2_Missense_Mutation_p.N1202S|UNC79_ENST00000256339.4_Missense_Mutation_p.N1025S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1202						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AATGTTGCTAACCTCAGCGAT	0.478000													36	93					0	0	0.007835	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395846	47395846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:47395846C>T	ENST00000310638.4	-	12	1532	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	CYP4A11_ENST00000371904.4_Missense_Mutation_p.G502R|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	501			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGGTGGATTCCATTTTTGGAT	0.587000													8	44					0	0	0.003080	0	0
ANK1	286	broad.mit.edu	37	8	41573301	41573301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:41573301C>T	ENST00000396942.1	-	14	1554	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	ANK1_ENST00000347528.4_Missense_Mutation_p.E491K|ANK1_ENST00000396945.1_Missense_Mutation_p.E491K|ANK1_ENST00000379758.2_Missense_Mutation_p.E491K|ANK1_ENST00000352337.4_Missense_Mutation_p.E491K|ANK1_ENST00000289734.7_Missense_Mutation_p.E491K|ANK1_ENST00000265709.8_Missense_Mutation_p.E524K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	491	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTTATTTTCCAGCAGGAGC	0.587000													11	101					0	0	0.002450	0	0
HYDIN	54768	broad.mit.edu	37	16	70896038	70896038	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:70896038C>T	ENST00000393567.2	-	69	11840	c.11690G>A	c.(11689-11691)gGa>gAa	p.G3897E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3897								p.G3848E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGCACGATTCCCGAAGAGGG	0.542000													5	13					0	0	0.000602	0	0
HMCN1	83872	broad.mit.edu	37	1	185834918	185834918	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:185834918G>A	ENST00000271588.4	+	4	773	c.544G>A	c.(544-546)Gga>Aga	p.G182R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G182R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	182	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACCCATATTGGATATAAAGT	0.333000													8	33					0	0	0.004482	0	0
CCKAR	886	broad.mit.edu	37	4	26483701	26483701	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:26483701G>A	ENST00000295589.3	-	5	1040	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	282					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACAGCTGCCGGAGCTCCAGCT	0.607000													17	54					0	0	0.004007	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566802	103566802	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:103566802C>T	ENST00000380069.3	+	1	322	c.246C>T	c.(244-246)tcC>tcT	p.S82S		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	82										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTCCTGCTCCCTGTTCCGGT	0.667000													3	21					0	0	0.004672	0	0
MFRP	83552	broad.mit.edu	37	11	119217204	119217204	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:119217204A>G	ENST00000555262.1	-	1	179	c.20T>C	c.(19-21)gTc>gCc	p.V7A	MFRP_ENST00000530681.1_Missense_Mutation_p.V7A|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.V7A|MFRP_ENST00000360167.4_Missense_Mutation_p.V7A|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCAGAGGATGACATCTGAGAA	0.567000													3	48					0	0	0.000602	0	0
XDH	7498	broad.mit.edu	37	2	31599949	31599949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:31599949G>A	ENST00000379416.3	-	14	1445	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	466					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGTCTTGAGGGCTGAGATGGT	0.473000													27	93					0	0	0.002096	0	0
SV2C	22987	broad.mit.edu	37	5	75591627	75591627	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:75591627C>T	ENST00000502798.2	+	9	1804	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	SV2C_ENST00000322285.7_Silent_p.F454F|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	454					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCGTTTGGTTCCCTGATGTCA	0.393000													17	103					0	0	0.008871	0	0
PCSK5	5125	broad.mit.edu	37	9	78641900	78641900	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:78641900G>A	ENST00000545128.1	+	5	1117	c.579G>A	c.(577-579)gtG>gtA	p.V193V	PCSK5_ENST00000376767.3_Silent_p.V193V|PCSK5_ENST00000376752.4_Silent_p.V193V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	193	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTTGCGACGTGAATGGGAATG	0.512000													8	34					0	0	0.006214	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369559	7369559	+	Missense_Mutation	SNP	G	G	A	rs17854296		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:7369559G>A	ENST00000311403.4	-	3	901	c.562C>T	c.(562-564)Cct>Tct	p.P188S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P188S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	188				P -> S (in Ref. 6; AAH43352).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCTGGGGTAGGAGGTACCCAG	0.692000													9	28					0	0	0.004482	0	0
PDIA2	64714	broad.mit.edu	37	16	333348	333348	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:333348C>T	ENST00000219406.6	+	1	197	c.179C>T	c.(178-180)cCt>cTt	p.P60L	PDIA2_ENST00000404312.1_Missense_Mutation_p.P60L	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	60	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGAGCACCCTGCCCTGCTG	0.701000													9	34					0	0	0.001855	0	0
SOGA2	23255	broad.mit.edu	37	18	8819105	8819105	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:8819105C>T	ENST00000359865.3	+	13	3146	c.3004C>T	c.(3004-3006)Ccg>Tcg	p.P1002S	SOGA2_ENST00000400050.3_Missense_Mutation_p.P961S|SOGA2_ENST00000517570.1_Missense_Mutation_p.P961S|SOGA2_ENST00000518815.1_Missense_Mutation_p.P327S|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1321S|SOGA2_ENST00000306285.7_Missense_Mutation_p.P327S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1312																	TGACTCCATCCCGTTTGAAGA	0.597000													9	22					0	0	0.006214	0	0
KIF4B	285643	broad.mit.edu	37	5	154394617	154394617	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:154394617G>A	ENST00000435029.4	+	1	1358	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	400					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAGGAGAATGAAAAATTAAG	0.458000													20	97					0	0	0.003330	0	0
SOX2	6657	broad.mit.edu	37	3	181430308	181430308	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:181430308G>A	ENST00000325404.1	+	1	587	c.160G>A	c.(160-162)Ggg>Agg	p.G54R	SOX2_ENST00000431565.2_Missense_Mutation_p.G54R	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	54					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GTGGTCCCGCGGGCAGCGGCG	0.662000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						7	24					0	0	0.004482	0	0
CLVS1	157807	broad.mit.edu	37	8	62289186	62289186	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:62289186C>T	ENST00000519846.1	+	4	950	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.R160C			Q8IUQ0	CLVS1_HUMAN	clavesin 1	160	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGACATCCTTCGTGCCATCCT	0.458000													18	78					0	0	0.007413	0	0
ASAP2	8853	broad.mit.edu	37	2	9515056	9515056	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:9515056C>T	ENST00000281419.3	+	17	2069	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	ASAP2_ENST00000315273.4_Missense_Mutation_p.P577S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	577					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGAAAAAATCCCACTGGCCAA	0.473000													18	76					0	0	0.007413	0	0
C15orf60	283677	broad.mit.edu	37	15	73852092	73852092	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:73852092G>A	ENST00000331090.6	+	6	664		c.e6-1		C15orf60_ENST00000560581.1_Splice_Site	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60											endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATCCCTGCAGACTCTTCTGG	0.453000													11	53					0	0	0.001368	0	0
DOT1L	84444	broad.mit.edu	37	19	2199905	2199905	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:2199905C>T	ENST00000398665.3	+	8	710	c.674C>T	c.(673-675)tCa>tTa	p.S225L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	225						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATTTCCTCTCAGAAGAGTGG	0.647000													10	33					0	0	0.008291	0	0
IL31RA	133396	broad.mit.edu	37	5	55168166	55168166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:55168166C>T	ENST00000396834.1	+	6	780	c.284C>T	c.(283-285)tCt>tTt	p.S95F	IL31RA_ENST00000359040.5_Missense_Mutation_p.S114F|IL31RA_ENST00000354961.4_Missense_Mutation_p.S95F|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.S114F|IL31RA_ENST00000396836.2_Missense_Mutation_p.S114F	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	82	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCGTGCTCTTTTTTCCTT	0.348000													13	34					0	0	0.001855	0	0
GABRA6	2559	broad.mit.edu	37	5	161119029	161119029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:161119029G>A	ENST00000523217.1	+	8	1121	c.879G>A	c.(877-879)atG>atA	p.M293I	GABRA6_ENST00000274545.5_Missense_Mutation_p.M303I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	303					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACTGCCATGGATTGGTTCA	0.428000										TCGA Ovarian(5;0.080)			14	46					0	0	0.001855	0	0
ERC2	26059	broad.mit.edu	37	3	55768834	55768834	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:55768834C>T	ENST00000288221.6	-	15	2932	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	893						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGTCTTTTTCCCGCTTGAGG	0.483000													9	19					0	0	0.008291	0	0
C1orf173	127254	broad.mit.edu	37	1	75038211	75038211	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:75038211C>T	ENST00000326665.5	-	14	3401	c.3183G>A	c.(3181-3183)agG>agA	p.R1061R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1061	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCAGCTTTCCTTCGCTCTC	0.428000													37	105					0	0	0.003755	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139155	90139155	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:90139155C>T	ENST00000492446.1	+	0	78																											TGCTCTGTTTCCCAGGTAAGG	0.498000													10	132					0	0	0.000978	0	0
ZNF331	55422	broad.mit.edu	37	19	54080689	54080689	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:54080689T>A	ENST00000253144.9	+	7	2208	c.875T>A	c.(874-876)aTt>aAt	p.I292N	ZNF331_ENST00000449416.1_Missense_Mutation_p.I292N|ZNF331_ENST00000411977.2_Missense_Mutation_p.I292N|ZNF331_ENST00000513999.1_Missense_Mutation_p.I292N|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.I292N|ZNF331_ENST00000511593.2_Missense_Mutation_p.I292N|ZNF331_ENST00000511154.1_Missense_Mutation_p.I292N	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CATAAAAGAATTCACACAGGT	0.433000			T	?	follicular thyroid adenoma								11	26					0	0	0.008291	0	0
VWCE	220001	broad.mit.edu	37	11	61032491	61032491	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:61032491C>T	ENST00000335613.5	-	18	2462	c.2076G>A	c.(2074-2076)agG>agA	p.R692R	VWCE_ENST00000535710.1_Silent_p.R157R	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	692	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCGCCACCTTCCTTCCCTCGT	0.662000													9	51					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34049314	34049314	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:34049314C>T	ENST00000373381.4	-	47	7344	c.7168G>A	c.(7168-7170)Gac>Aac	p.D2390N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2392	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGTTATAGTCGGGCTCCACT	0.502000													28	78					0	0	0.005443	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:57354177G>A	ENST00000314922.3	-	2	534	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_ENST00000451791.2_Missense_Mutation_p.S153F|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527000													30	88					0	0	0.007291	0	0
TRBV2	28620	broad.mit.edu	37	7	142001108	142001108	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:142001108C>T	ENST00000455382.2	+	0	274																											TTTCTGGTTTCCTTTTATAAT	0.398000													4	19					0	0	0.000602	0	0
WNT9A	7483	broad.mit.edu	37	1	228109609	228109609	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:228109609G>A	ENST00000272164.5	-	4	718	c.708C>T	c.(706-708)ttC>ttT	p.F236F	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	236					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CCACCTCATGGAAAGGCGCCA	0.627000													18	59					0	0	0.001523	0	0
MISP	126353	broad.mit.edu	37	19	760010	760010	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:760010C>T	ENST00000215582.6	+	3	1985	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GGACAGTGCTCCTCCCGGGCA	0.577000													9	26					0	0	0.008291	0	0
MGAM	8972	broad.mit.edu	37	7	141762457	141762457	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:141762457T>A	ENST00000475668.2	+	35	4266	c.4212T>A	c.(4210-4212)aaT>aaA	p.N1404K	MGAM_ENST00000549489.2_Missense_Mutation_p.N1404K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1404	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATACAACAATCCACAGAATC	0.428000													11	27					0	0	0.008291	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660915	50660915	+	Missense_Mutation	SNP	G	G	A	rs141188316		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:50660915G>A	ENST00000439308.2	-	14	2869	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R793C|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	793					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAGAGAAAACGAAGCCGTGCA	0.562000													22	33					0	0	0.001882	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166324	140166324	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140166324C>T	ENST00000504120.2	+	1	449	c.449C>T	c.(448-450)tCg>tTg	p.S150L	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S150L|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S150L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAATTCGCGTTTTCCG	0.443000													11	78					0	0	0.000978	0	0
CNST	163882	broad.mit.edu	37	1	246810636	246810636	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:246810636C>T	ENST00000366513.4	+	9	1402	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S378F	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	378					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACCCAGTCCTCCGAGACAGCA	0.587000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	84					0	0	0.002299	0	0
TENM3	55714	broad.mit.edu	37	4	183694733	183694733	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:183694733C>T	ENST00000511685.1	+	23	5124	c.5001C>T	c.(4999-5001)agC>agT	p.S1667S	TENM3_ENST00000406950.2_Silent_p.S1667S|RP11-18D7.2_ENST00000513255.1_RNA					teneurin transmembrane protein 3																		AGTCATCTAGCCGAGAAGAAG	0.443000													20	97					0	0	0.001882	0	0
TMCC2	9911	broad.mit.edu	37	1	205238603	205238603	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:205238603C>T	ENST00000358024.3	+	3	1662	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	TMCC2_ENST00000545499.1_Missense_Mutation_p.P347S|TMCC2_ENST00000329800.7_Missense_Mutation_p.P185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.P200S|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	425						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGTGTCCAAGCCCCGGGAGTT	0.672000													9	52					0	0	0.001368	0	0
KAT6A	7994	broad.mit.edu	37	8	41798675	41798675	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:41798675G>A	ENST00000396930.3	-	16	3267	c.2724C>T	c.(2722-2724)gcC>gcT	p.A908A	KAT6A_ENST00000406337.1_Silent_p.A908A|KAT6A_ENST00000265713.2_Silent_p.A908A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	908					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTTCCTGGGTGGCTTCTGATT	0.493000													10	66					0	0	0.008291	0	0
OR2L2	26246	broad.mit.edu	37	1	248201574	248201574	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:248201574A>T	ENST00000366479.2	+	1	101	c.5A>T	c.(4-6)gAa>gTa	p.E2V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCCCCATGGAAAATTACAAT	0.383000													14	61					0	0	0.002450	0	0
TECTA	7007	broad.mit.edu	37	11	120984327	120984327	+	Silent	SNP	C	C	T	rs34605023	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:120984327C>T	ENST00000392793.1	+	6	961	c.690C>T	c.(688-690)atC>atT	p.I230I	TECTA_ENST00000264037.2_Silent_p.I230I			O75443	TECTA_HUMAN	tectorin alpha	230	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCCCGAGATCGTGAATATCC	0.493000													15	23					0	0	0.003163	0	0
BRINP2	57795	broad.mit.edu	37	1	177249716	177249716	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:177249716C>T	ENST00000361539.4	+	8	1716	c.1404C>T	c.(1402-1404)caC>caT	p.H468H	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		468						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CGTGTGCCCACTGTGCTCCAG	0.642000													4	22					0	0	0.000248	0	0
SGSH	6448	broad.mit.edu	37	17	78188095	78188095	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:78188095G>A	ENST00000326317.6	-	5	625	c.539C>T	c.(538-540)cCc>cTc	p.P180L	SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Missense_Mutation_p.P192S	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	180					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACAGCGGTGGGGGTCGTGGAA	0.652000													5	29					0	0	0.001168	0	0
PACS1	55690	broad.mit.edu	37	11	65987269	65987269	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:65987269C>T	ENST00000320580.4	+	8	1064	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	344					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTTAAAGTTTCAGATGAGGTA	0.488000													11	38					0	0	0.000978	0	0
DRD5	1816	broad.mit.edu	37	4	9784922	9784922	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:9784922G>A	ENST00000304374.2	+	1	1665	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	423					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCGGCAACCGGGAGGTGGACA	0.562000													8	48					0	0	0.006214	0	0
KCNJ5	3762	broad.mit.edu	37	11	128782088	128782088	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:128782088G>A	ENST00000529694.1	+	2	1296	c.920G>A	c.(919-921)gGg>gAg	p.G307E	KCNJ5_ENST00000338350.4_Missense_Mutation_p.G307E|KCNJ5_ENST00000533599.1_Missense_Mutation_p.G307E	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	307					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATTCTAGAAGGGATGGTGGAA	0.517000													14	44					0	0	0.004990	0	0
GCKR	2646	broad.mit.edu	37	2	27722055	27722055	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:27722055G>A	ENST00000264717.2	+	6	538	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	159	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGCCTTGCACGGGATTGAGGA	0.522000													9	47					0	0	0.008291	0	0
MED13L	23389	broad.mit.edu	37	12	116460261	116460261	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:116460261C>T	ENST00000281928.3	-	5	831	c.625_splice	c.e5+1	p.V209_splice		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	209					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCATACTTACCTTGAAATGGT	0.463000													5	25					0	0	0.001168	0	0
LIPG	9388	broad.mit.edu	37	18	47108848	47108848	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:47108848G>A	ENST00000261292.4	+	7	1431	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	LIPG_ENST00000427224.2_Missense_Mutation_p.E311K	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	385	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCTGCCACTGGAAATGTAAGT	0.483000													16	38					0	0	0.004990	0	0
PENK	5179	broad.mit.edu	37	8	57354176	57354176	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:57354176G>A	ENST00000314922.3	-	2	535	c.459C>T	c.(457-459)tcC>tcT	p.S153S	PENK_ENST00000451791.2_Silent_p.S153S|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCAGGTCTGAGGAATTGGCCA	0.532000													30	86					0	0	0.007291	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221732	140221732	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140221732G>A	ENST00000531613.1	+	1	826	c.826G>A	c.(826-828)Gca>Aca	p.A276T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A276T|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAATGGGGCAATTTCATA	0.388000													8	38					0	0	0.003080	0	0
UNC13C	440279	broad.mit.edu	37	15	54542546	54542546	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:54542546C>T	ENST00000545554.1	+	7	3352	c.3352C>T	c.(3352-3354)Ctg>Ttg	p.L1118L	UNC13C_ENST00000260323.11_Silent_p.L1118L|UNC13C_ENST00000537900.1_Silent_p.L1116L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1118					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAAGGGCTCCTGTGGGGCAT	0.517000													12	45					0	0	0.003163	0	0
IGKV1-12	28940	broad.mit.edu	37	2	89339959	89339959	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:89339959C>T	ENST00000480492.1	-	0	159																											GACTCTGTCTCCTACAGATGC	0.478000													15	120					0	0	0.006122	0	0
ATP1A4	480	broad.mit.edu	37	1	160151515	160151515	+	Silent	SNP	G	G	A	rs61734684	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:160151515G>A	ENST00000368081.4	+	19	3249	c.2778G>A	c.(2776-2778)acG>acA	p.T926T	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.T62T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	926					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGCCAAACGGCCTTTTTTG	0.512000													16	58					0	0	0.006122	0	0
HTR3E	285242	broad.mit.edu	37	3	183823756	183823756	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:183823756C>T	ENST00000415389.2	+	7	1390	c.925_splice	c.e7+1	p.I308_splice	HTR3E_ENST00000436361.2_Splice_Site_p.I308_splice|HTR3E_ENST00000335304.2_Splice_Site_p.I323_splice|HTR3E_ENST00000440596.2_Splice_Site_p.I334_splice|HTR3E_ENST00000425359.2_Splice_Site_p.I293_splice	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	308						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCCCTCATCGGTATGGCTC	0.547000													18	85					0	0	0.008871	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352143	15352143	+	RNA	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:15352143C>T	ENST00000344693.5	-	0	615					NR_027270.1																						GTACCGGATTCGGTACCCGGA	0.622000													4	16					0	0	0.000248	0	0
UNC5B	219699	broad.mit.edu	37	10	73058914	73058914	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:73058914C>T	ENST00000335350.6	+	17	3134	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	UNC5B_ENST00000373192.4_Silent_p.I895I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	906	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGGGTGTGATCCTGGACCTCT	0.612000													46	123					0	0	0.003610	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135829724	135829724	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:135829724C>T	ENST00000250617.6	-	3	1482	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	93	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAATTGACCCCTGAATAAAGG	0.378000													12	27					0	0	0.001855	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763909	140763909	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140763909T>G	ENST00000518325.1	+	1	1443	c.1443T>G	c.(1441-1443)agT>agG	p.S481R	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGACAGTGAGGATAATG	0.537000													8	24					0	0	0.003080	0	0
HMCN1	83872	broad.mit.edu	37	1	185834919	185834919	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:185834919G>A	ENST00000271588.4	+	4	774	c.545G>A	c.(544-546)gGa>gAa	p.G182E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G182E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	182	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCCATATTGGATATAAAGTC	0.338000													8	32					0	0	0.004482	0	0
ARMC2	84071	broad.mit.edu	37	6	109294619	109294619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:109294619C>T	ENST00000392644.4	+	18	2674	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	ARMC2_ENST00000368972.3_Missense_Mutation_p.H671Y	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	836							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCACAAACTCCATTGGGAAAC	0.393000													22	56					0	0	0.003954	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126712	100126712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:100126712G>A	ENST00000330710.5	+	5	1569	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G491S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	491					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAACCTGAACGGCCTCTACAT	0.602000													11	34					0	0	0.001855	0	0
LEFTY1	10637	broad.mit.edu	37	1	226074696	226074696	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:226074696C>T	ENST00000272134.5	-	4	911	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	RP4-559A3.7_ENST00000432920.2_3'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	278					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CAGTTCTCGGCCCACTTCATC	0.647000													6	24					0	0	0.001984	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027346	9027346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:9027346G>A	ENST00000383836.3	-	22	3584	c.3157C>T	c.(3157-3159)Cgc>Tgc	p.R1053C	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R1029C	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1053					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGGGGCGGGCGGAGCTGGGCG	0.746000			T	RAF1	pilocytic astrocytoma								4	23					0	0	0.003080	0	0
ROBO2	6092	broad.mit.edu	37	3	77684173	77684173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:77684173C>T	ENST00000461745.1	+	24	4813	c.3913C>T	c.(3913-3915)Cga>Tga	p.R1305*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R1321*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R1366*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1305					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTGCCTCATCGAAGGGAAGG	0.483000													8	27					0	0	0.004482	0	0
ROR2	4920	broad.mit.edu	37	9	94538041	94538041	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:94538041G>A	ENST00000375708.3	-	2	355	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	53					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTTGGAATCGGGCCGTCCTGC	0.527000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	0.001168	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078514	107078514	+	RNA	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:107078514G>A	ENST00000390628.2	-	0	270																											TGCCAACGACGATCCATCCTA	0.522000													8	46					0	0	0.004482	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576796	158576796	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:158576796G>A	ENST00000361284.1	+	1	568	c.568G>A	c.(568-570)Gga>Aga	p.G190R		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTAGCCTGTGGAGATACAGG	0.493000													22	74					0	0	0.002299	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105367	60105367	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:60105367G>A	ENST00000300182.4	+	2	366	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	101						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403000													20	57					0	0	0.002299	0	0
FAM208B	54906	broad.mit.edu	37	10	5791587	5791587	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:5791587C>T	ENST00000328090.5	+	15	6828	c.6203C>T	c.(6202-6204)tCt>tTt	p.S2068F		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2068																	AGCTCTTCCTCTTGGAGAGAG	0.473000													9	38					0	0	0.004482	0	0
ELL	8178	broad.mit.edu	37	19	18557592	18557592	+	Missense_Mutation	SNP	G	G	A	rs151228060	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:18557592G>A	ENST00000262809.4	-	9	1569	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	500					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GTGGACGTGGGAACACTGGAA	0.607000			T	MLL	AL								8	25					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13841988	13841988	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:13841988G>A	ENST00000265104.4	-	33	5401	c.5297C>T	c.(5296-5298)tCc>tTc	p.S1766F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1766	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTTGAGAGGAAATTGACAG	0.333000									Kartagener syndrome				7	45					0	0	0.001984	0	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:109031524C>T	ENST00000478945.1	-	3	295	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATCTACTTCCCCCTCCAAG	0.398000													14	50					0	0	0.004990	0	0
STAB2	55576	broad.mit.edu	37	12	104025423	104025423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:104025423G>A	ENST00000388887.2	+	6	739	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	179	EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGATGGCGATGGAACCTGTGA	0.488000													22	66					0	0	0.005443	0	0
PHKB	5257	broad.mit.edu	37	16	47630348	47630348	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:47630348C>T	ENST00000455779.1	+	14	1433	c.1248C>T	c.(1246-1248)aaC>aaT	p.N416N	PHKB_ENST00000299167.8_Silent_p.N423N|PHKB_ENST00000323584.5_Silent_p.N423N|PHKB_ENST00000566044.1_Silent_p.N416N			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	423					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AAAAAAATAACCCTGGTAGTC	0.353000													17	65					0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13751285	13751285	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:13751285G>A	ENST00000265104.4	-	65	11217	c.11113C>T	c.(11113-11115)Cct>Tct	p.P3705S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3705	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTATCTCAGGGGTGTAGGCT	0.443000									Kartagener syndrome				14	51					0	0	0.001855	0	0
PDE6C	5146	broad.mit.edu	37	10	95399866	95399866	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:95399866G>A	ENST00000371447.3	+	12	1660	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	508					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.E508K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGAACTGTACGAATTCCGCTT	0.423000													18	55					0	0	0.008871	0	0
WNT10B	7480	broad.mit.edu	37	12	49360131	49360131	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:49360131C>T	ENST00000301061.4	-	5	1265	c.917G>A	c.(916-918)gGa>gAa	p.G306E	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	306					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GACCAGCTCTCCTGAGAGGCG	0.637000													18	81					0	0	0.002780	0	0
C6	729	broad.mit.edu	37	5	41181562	41181562	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:41181562C>T	ENST00000263413.3	-	7	1090	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	C6_ENST00000337836.5_Missense_Mutation_p.G276R|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	276	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGAGCTCCCCCCCTGACTT	0.378000													9	47					0	0	0.000978	0	0
CALHM1	255022	broad.mit.edu	37	10	105218494	105218494	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:105218494G>A	ENST00000329905.5	-	1	151	c.15C>T	c.(13-15)ttC>ttT	p.F5F	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	5						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AGATCATCCGGAACTTGTCCA	0.627000													4	21					0	0	0.000248	0	0
NDST3	9348	broad.mit.edu	37	4	118975786	118975786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:118975786C>T	ENST00000296499.5	+	2	1124	c.721C>T	c.(721-723)Cca>Tca	p.P241S	NDST3_ENST00000433996.2_Missense_Mutation_p.P241S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	241	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGTAAAGACCCCAGAAAACCT	0.388000													4	80					0	0	0.000248	0	0
GPAT2	150763	broad.mit.edu	37	2	96689176	96689176	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:96689176G>A	ENST00000434632.1	-	19	2368	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	GPAT2_ENST00000453542.1_Missense_Mutation_p.R566W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R637W|GPAT2_ENST00000377137.3_Intron			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	637					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGGCTGGCCGGGAGCCTGGG	0.582000													11	36					0	0	0.002450	0	0
UNK	85451	broad.mit.edu	37	17	73818610	73818610	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:73818610C>T	ENST00000293218.3	+	15	2118	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	UNK_ENST00000589666.1_Silent_p.F630F			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	630							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGAAGCTTCTCCCCGGGCA	0.612000													18	90					0	0	0.001882	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41131261	41131261	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:41131261G>T	ENST00000421990.2	-	4	688	c.343C>A	c.(343-345)Cgc>Agc	p.R115S	PTGES3L_ENST00000453594.1_Intron|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R54S|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R115S|PTGES3L_ENST00000409446.3_Missense_Mutation_p.R77S|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R54S	NM_001136042.2	NP_001129514.2												p.R54S(1)									GTAATAGAGCGGGAAGAGCGC	0.517000													5	155					0.000602214	0.000952615	0.000602	1	0
MEST	4232	broad.mit.edu	37	7	130135307	130135307	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:130135307C>T	ENST00000223215.4	+	2	346	c.125C>T	c.(124-126)tCa>tTa	p.S42L	MEST_ENST00000378576.4_Missense_Mutation_p.S33L|MEST_ENST00000437945.1_Missense_Mutation_p.S42L|MEST_ENST00000416162.2_Missense_Mutation_p.S33L|MEST_ENST00000341441.4_Missense_Mutation_p.S33L|MEST_ENST00000393187.1_Missense_Mutation_p.S33L	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	42					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GCCCTTCACTCATGGAAGTCT	0.557000													70	401					0	0	0.003610	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829107	96829107	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:96829107G>A	ENST00000371270.3	-	1	147	c.53C>T	c.(52-54)tCa>tTa	p.S18L	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	18					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCTCCAGAGTGAAAAGAGAAG	0.458000													6	42					0	0	0.001168	0	0
CWH43	80157	broad.mit.edu	37	4	48990598	48990598	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:48990598C>T	ENST00000226432.4	+	2	331	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	CWH43_ENST00000513409.1_Missense_Mutation_p.L23F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	50					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TATAGCATTTCTTTCTCCAAT	0.378000													8	38					0	0	0.003080	0	0
UGT8	7368	broad.mit.edu	37	4	115544202	115544202	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:115544202C>T	ENST00000310836.6	+	2	688	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	UGT8_ENST00000394511.3_Missense_Mutation_p.L56F	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	56					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGTGTTCCTCCTCTCTGAAGG	0.488000													11	46					0	0	0.000978	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817356	69817356	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:69817356G>A	ENST00000251566.4	-	1	153	c.123C>T	c.(121-123)gtC>gtT	p.V41V		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	41						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCTAGAATGACCTTGACAT	0.463000													13	45					0	0	0.001855	0	0
TACC2	10579	broad.mit.edu	37	10	123844641	123844641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:123844641C>T	ENST00000369005.1	+	4	2966	c.2626C>T	c.(2626-2628)Cat>Tat	p.H876Y	TACC2_ENST00000515603.1_Missense_Mutation_p.H876Y|TACC2_ENST00000453444.2_Missense_Mutation_p.H876Y|TACC2_ENST00000515273.1_Missense_Mutation_p.H876Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.H876Y	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	876						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTCCCAAATCCATGTACCTGT	0.517000													12	33					0	0	0.001368	0	0
RSPO3	84870	broad.mit.edu	37	6	127476502	127476502	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:127476502G>A	ENST00000356698.4	+	4	1142	c.553G>A	c.(553-555)Gca>Aca	p.A185T	RSPO3_ENST00000368317.3_Missense_Mutation_p.A185T	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	185	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GCATCCTTCAGCAAAGGGTAA	0.438000													12	26					0	0	0.001855	0	0
GALNT11	63917	broad.mit.edu	37	7	151815816	151815816	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:151815816G>A	ENST00000434507.1	+	12	1943	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	GALNT11_ENST00000320311.2_Silent_p.Q502Q|GALNT11_ENST00000430044.2_Silent_p.Q502Q|GALNT11_ENST00000452146.2_Silent_p.Q421Q			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	502	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GCCCAAGTCAGAAGGGAGGTC	0.567000													4	34					0	0	0.000602	0	0
APOB	338	broad.mit.edu	37	2	21231015	21231015	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:21231015C>T	ENST00000233242.1	-	26	8852	c.8725G>A	c.(8725-8727)Gag>Aag	p.E2909K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2909					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTTGATCTCGTTGCGCAGG	0.468000													139	527					0	0	0.003610	0	0
PAH	5053	broad.mit.edu	37	12	103245469	103245469	+	Missense_Mutation	SNP	G	G	A	rs62642920		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:103245469G>A	ENST00000553106.1	-	8	1380	c.908C>T	c.(907-909)tCc>tTc	p.S303F	PAH_ENST00000307000.2_Missense_Mutation_p.S298F	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	303			S -> P (in PKU; haplotype 5).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCTTACCTGGGAAAACTGGGC	0.493000													8	32					0	0	0.006214	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401651	1401651	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:1401651C>T	ENST00000381524.3	+	3	241	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.L19F|CSF2RA_ENST00000361536.3_Missense_Mutation_p.L19F|CSF2RA_ENST00000381529.3_Missense_Mutation_p.L19F|CSF2RA_ENST00000432318.2_Missense_Mutation_p.L19F|CSF2RA_ENST00000381500.1_Missense_Mutation_p.L19F|CSF2RA_ENST00000417535.2_Missense_Mutation_p.L19F|CSF2RA_ENST00000355432.3_Missense_Mutation_p.L19F|CSF2RA_ENST00000355805.2_Missense_Mutation_p.L19F			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	19						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCAGCATTCCTCCTGATCCC	0.522000													54	166					0	0	0.003610	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495610	27495610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:27495610G>A	ENST00000356183.4	-	25	3938	c.3923C>T	c.(3922-3924)tCt>tTt	p.S1308F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1308F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1308						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATCCAAAGACTCTTCAAA	0.468000													11	44					0	0	0.008291	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053841	67053841	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:67053841G>A	ENST00000295568.4	+	3	503	c.372G>A	c.(370-372)caG>caA	p.Q124Q	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.Q150Q|KBTBD8_ENST00000469661.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	150										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGGACCCACAGAATTCTATTG	0.413000													19	36					0	0	0.007413	0	0
KRT6C	286887	broad.mit.edu	37	12	52865509	52865509	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:52865509C>T	ENST00000252250.6	-	3	810	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	255	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TTGATTTCATCCTCATATCTA	0.428000													20	67					0	0	0.002780	0	0
BRINP3	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:190067595C>T	ENST00000367462.3	-	8	2085	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W516*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		618						extracellular region		p.W618C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATGTCTTCCATTTGTTCC	0.433000													42	178					0	0	0.003610	0	0
CCDC147	159686	broad.mit.edu	37	10	106152024	106152024	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:106152024G>A	ENST00000369704.3	+	10	1533	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	467										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAAAGTTCGTGAAACACAGAT	0.353000													26	74					0	0	0.004656	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88882949	88882949	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:88882949G>A	ENST00000303236.3	-	10	2063	c.1763_splice	c.e10+1	p.R588_splice	EIF2AK3_ENST00000419748.1_Splice_Site_p.R437_splice	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	588			R -> Q (in WRS; in a Pakistani family; probable complete loss of activity).		activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GACTCTTACCGTGATATATAT	0.303000													60	276					0	0	0.003610	0	0
PCDH9	5101	broad.mit.edu	37	13	67801345	67801345	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:67801345G>A	ENST00000544246.1	-	2	1919	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	PCDH9_ENST00000377861.3_Missense_Mutation_p.H410Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.H410Y|PCDH9_ENST00000328454.5_Missense_Mutation_p.H410Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.H410Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	410	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCCTTCAAATGAAATGGGACC	0.378000													8	29					0	0	0.004482	0	0
KRT1	3848	broad.mit.edu	37	12	53069058	53069058	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:53069058G>A	ENST00000252244.3	-	9	1912	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	618	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCCCAGAGCTGGATCCCCGGC	0.627000													17	59					0	0	0.006122	0	0
DLX6	1750	broad.mit.edu	37	7	96637108	96637108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:96637108G>A	ENST00000518156.2	+	2	1025	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.E171K|DLX6_ENST00000555308.1_Missense_Mutation_p.E71K|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	81					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGAGAGAGCCGAACTGGCAGC	0.527000													5	8					0	0	0.000602	0	0
CCDC71	64925	broad.mit.edu	37	3	49200967	49200967	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:49200967G>A	ENST00000321895.6	-	2	781	c.675C>T	c.(673-675)ccC>ccT	p.P225P		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	225										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGGAGCTTTGGGCCGAGGGT	0.597000													21	70					0	0	0.002780	0	0
FMO2	2327	broad.mit.edu	37	1	171162576	171162576	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:171162576C>T	ENST00000441535.1	+	3	352	c.235C>T	c.(235-237)Cca>Tca	p.P79S	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Missense_Mutation_p.P79S|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	79					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGATTTTCCAAACTTCCT	0.353000													9	28					0	0	0.008291	0	0
OR6C70	390327	broad.mit.edu	37	12	55863664	55863664	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:55863664C>T	ENST00000327335.4	-	1	258	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ATGGTCTTTTCCCTGGTAACA	0.383000													10	36					0	0	0.006214	0	0
MIEF1	54471	broad.mit.edu	37	22	39909779	39909779	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:39909779C>T	ENST00000325301.2	+	6	1267	c.843C>T	c.(841-843)tcC>tcT	p.S281S	SMCR7L_ENST00000404569.1_Silent_p.S281S|SMCR7L_ENST00000402881.1_Silent_p.S281S	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		281						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CCATAGGGTCCCTCTTGGACT	0.557000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	47					0	0	0.003080	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203689	23203689	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:23203689C>A	ENST00000300061.2	+	4	778	c.635C>A	c.(634-636)tCc>tAc	p.S212Y		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	212					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AATGACACCTCCGACTGTGCC	0.498000													32	66					2.20474e-14	3.52231e-14	0.003755	1	0
UGT2B17	7367	broad.mit.edu	37	4	69433498	69433498	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:69433498C>T	ENST00000317746.2	-	1	747	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	235					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CACTATAAAACTGGTCCCACT	0.318000													27	126					0	0	0.008361	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.9_Silent_p.T165T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000													8	28					0	0	0.004482	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:51900733G>A	ENST00000268919.4	+	1	495	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTACCGCCACGAAATGGGTTG	0.592000													16	68					0	0	0.004007	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947716	57947716	+	Missense_Mutation	SNP	C	C	T	rs142831243		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:57947716C>T	ENST00000335397.3	+	3	1116	c.800C>T	c.(799-801)tCg>tTg	p.S267L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GATCAGTCTTCGGAGAAGAAT	0.512000													11	74					0	0	0.001855	0	0
MET	4233	broad.mit.edu	37	7	116339236	116339236	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:116339236C>T	ENST00000397752.3	+	2	298	c.98C>T	c.(97-99)tCc>tTc	p.S33F	MET_ENST00000436117.2_Missense_Mutation_p.S33F|MET_ENST00000318493.6_Missense_Mutation_p.S33F	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	33	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTAGCAAAGTCCGAGATGAAT	0.498000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				10	67					0	0	0.006214	0	0
EIF5	1983	broad.mit.edu	37	14	103802236	103802236	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:103802236C>T	ENST00000216554.3	+	3	715	c.39C>T	c.(37-39)ttC>ttT	p.F13F	EIF5_ENST00000558506.1_Silent_p.F13F|EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Silent_p.F13F	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	13					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CAGACCAGTTCTATCGCTACA	0.378000													21	76					0	0	0.004656	0	0
CACNA1S	779	broad.mit.edu	37	1	201047233	201047233	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:201047233C>T	ENST00000362061.3	-	11	1620		c.e11-1		CACNA1S_ENST00000367338.3_Splice_Site	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGGCAATGTCTGTAGGGTTG	0.597000													9	47					0	0	0.006214	0	0
OR2M5	127059	broad.mit.edu	37	1	248308755	248308755	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:248308755C>T	ENST00000366476.1	+	1	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACAAATTTTCTTCTATGTAT	0.458000													52	252					0	0	0.003610	0	0
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:241799053G>A	ENST00000366553.1	-	1	179	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	6					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433000													14	55					0	0	0.002450	0	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607295	26607295	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:26607295G>A	ENST00000270792.5	+	2	1068	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.G30R	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamic acid-rich protein like 3	30	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		AATCCTGGATGGGAAGCGCAT	0.592000													20	34					0	0	0.007413	0	0
TFAP2E	339488	broad.mit.edu	37	1	36060083	36060083	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:36060083G>A	ENST00000373235.3	+	7	1343	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	379	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGAGCCCGGAGTACAGAGCTG	0.587000													6	49					0	0	0.001168	0	0
IL4R	3566	broad.mit.edu	37	16	27373776	27373776	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:27373776C>G	ENST00000395762.2	+	11	1362	c.1103C>G	c.(1102-1104)cCg>cGg	p.P368R	IL4R_ENST00000543915.2_Missense_Mutation_p.P368R|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.P368R|IL4R_ENST00000380922.3_Missense_Mutation_p.P353R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	368					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTTGAGGCCCCGGTGGAGTGT	0.582000													13	32					0	0	0.001368	0	0
HLCS	3141	broad.mit.edu	37	21	38309625	38309625	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:38309625G>A	ENST00000399120.1	-	5	1350	c.120C>T	c.(118-120)atC>atT	p.I40I	HLCS_ENST00000336648.3_Silent_p.I40I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	40					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCGGCTCTAGGATCTGGGCTT	0.498000													20	45					0	0	0.001523	0	0
KDM5A	5927	broad.mit.edu	37	12	459854	459854	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:459854G>C	ENST00000399788.2	-	10	1603	c.1241C>G	c.(1240-1242)tCc>tGc	p.S414C	KDM5A_ENST00000382815.4_Missense_Mutation_p.S414C	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	414					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTCTTTTGAGGAGATATCTGC	0.443000			T	NUP98	AML								14	69					0	0	0.002450	0	0
SON	6651	broad.mit.edu	37	21	34926484	34926484	+	Silent	SNP	T	T	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:34926484T>G	ENST00000356577.4	+	3	5422	c.4947T>G	c.(4945-4947)ggT>ggG	p.G1649G	SON_ENST00000381679.4_Silent_p.G1649G|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.G1649G|SON_ENST00000300278.4_Silent_p.G1649G	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1649					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTCCTAGTGGTGGTAGTGAAG	0.353000													11	48					0	0	0.000978	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350631	89350631	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:89350631G>A	ENST00000301030.4	-	9	2779	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	ANKRD11_ENST00000378330.2_Silent_p.P773P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	773	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTAATTTTGAGGGCCGGTCTT	0.333000													7	39					0	0	0.001984	0	0
MPO	4353	broad.mit.edu	37	17	56351017	56351017	+	Missense_Mutation	SNP	C	C	T	rs149133270	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:56351017C>T	ENST00000340482.3	-	8	1651	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	MPO_ENST00000225275.3_Missense_Mutation_p.R460Q			P05164	PERM_HUMAN	myeloperoxidase	460					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CAGGTAGTCCCGGTAAGTGAT	0.587000													11	83					0	0	0.000978	0	0
SGSH	6448	broad.mit.edu	37	17	78188094	78188094	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:78188094G>A	ENST00000570923.1	-	5	599	c.575C>T	c.(574-576)cCc>cTc	p.P192L	SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000326317.6_Silent_p.P180P			P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	76					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CACAGCGGTGGGGGTCGTGGA	0.652000													5	29					0	0	0.001168	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207899	140207899	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140207899C>T	ENST00000529310.1	+	1	337	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L75L|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGACCTTCTGGAGGTAAA	0.637000													37	128					0	0	0.006999	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857481	9857481	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:9857481G>A	ENST00000396573.2	-	14	4229	c.3920C>T	c.(3919-3921)cCc>cTc	p.P1307L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1307L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1307L|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1307					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTCCGGGAGGGCCTGCTAAG	0.483000													26	89					0	0	0.006320	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231002	2231002	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:2231002C>T	ENST00000343516.6	-	18	2459	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	789	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCCCAAGGGCCTGGGGAGAGC	0.711000													4	22					0	0	0.000248	0	0
ICAM4	3386	broad.mit.edu	37	19	10397740	10397740	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:10397740C>T	ENST00000393717.2	+	1	61	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	ICAM4_ENST00000340992.4_Missense_Mutation_p.P18S|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.P18S	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	18				AAAYPGVGSALGRRTK -> RPPTRELGARWDAGL (in Ref. 1; AAA59538/AAA59537).	cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGCCGCCTACCCGGGAGTTGG	0.687000													3	14					0	0	0.000248	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221540	117221540	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:117221540G>A	ENST00000355044.3	+	22	3538	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.E189K	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1138						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGCAAACCCAGAACAGGTGAG	0.323000													7	40					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9069117	9069117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9069117C>T	ENST00000397910.4	-	3	18532	c.18329G>A	c.(18328-18330)aGg>aAg	p.R6110K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6112	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTCTGCCCTGGAGACCTC	0.498000													3	17					0	0	0.004672	0	0
PARP16	54956	broad.mit.edu	37	15	65553305	65553305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:65553305G>A	ENST00000261888.6	-	5	1196	c.751C>T	c.(751-753)Cct>Tct	p.P251S	PARP16_ENST00000444347.2_Missense_Mutation_p.P136S	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	251	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TACTTGGGAGGGATGTCTCCC	0.483000													18	84					0	0	0.006122	0	0
ADAM7	8756	broad.mit.edu	37	8	24350082	24350082	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:24350082G>A	ENST00000175238.6	+	15	1710	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	ADAM7_ENST00000520720.1_Missense_Mutation_p.E315K|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E543K|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	543	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAAAAACAAGGAAAACAGATT	0.368000													15	105					0	0	0.004990	0	0
C12orf50	160419	broad.mit.edu	37	12	88376890	88376890	+	Silent	SNP	C	C	T	rs148724422		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:88376890C>T	ENST00000298699.2	-	12	1389	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	C12orf50_ENST00000550553.1_Silent_p.K364K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	403										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGGATATATCTTTTCACTTT	0.299000													10	42					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9072272	9072272	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9072272G>A	ENST00000397910.4	-	3	15377	c.15174C>T	c.(15172-15174)acC>acT	p.T5058T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5060	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCTGGTAAGGTAGAAGAAA	0.478000													12	58					0	0	0.001368	0	0
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:22940373T>C	ENST00000397104.3	-	5	2064	c.2065A>G	c.(2065-2067)Aag>Gag	p.K689E	ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E					zinc finger protein 99									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343000													3	28					0	0	0.004672	0	0
H6PD	9563	broad.mit.edu	37	1	9324120	9324120	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:9324120C>T	ENST00000377403.2	+	5	1870	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	H6PD_ENST00000602477.1_Missense_Mutation_p.S534F	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	523	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTGTTCTTTTCCCAGCAGCAG	0.642000													14	91					0	0	0.003163	0	0
ABCA11P	79963	broad.mit.edu	37	4	419882	419882	+	RNA	SNP	A	A	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:419882A>T	ENST00000451020.2	-	0	1156					NR_002451.2																						CTAGTAAATAATCTTTACCAA	0.423000													3	5					0	0	0.004672	0	0
KDM5A	5927	broad.mit.edu	37	12	459853	459853	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:459853G>A	ENST00000399788.2	-	10	1604	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	KDM5A_ENST00000382815.4_Silent_p.S414S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	414					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGTCTTTTGAGGAGATATCTG	0.438000			T	NUP98	AML								14	68					0	0	0.002450	0	0
PAPPA	5069	broad.mit.edu	37	9	118949536	118949536	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:118949536C>T	ENST00000328252.3	+	2	888	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	173					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACTTTTTCTCCTTGAAGACAG	0.527000													9	47					0	0	0.004482	0	0
APBA3	9546	broad.mit.edu	37	19	3760157	3760157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:3760157G>A	ENST00000316757.3	-	2	306	c.106C>T	c.(106-108)Cag>Tag	p.Q36*		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	36					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCCCACTGGCTGTCAGGG	0.617000													13	33					0	0	0.003163	0	0
OR7E24	26648	broad.mit.edu	37	19	9362115	9362115	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9362115C>T	ENST00000456448.1	+	1	510	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGACATGCTCCTGAGTGTGA	0.478000													12	36					0	0	0.001855	0	0
INPP4B	8821	broad.mit.edu	37	4	142949952	142949952	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:142949952C>T	ENST00000513000.1	-	27	3191	c.2758G>A	c.(2758-2760)Gga>Aga	p.G920R	INPP4B_ENST00000262992.4_Missense_Mutation_p.G920R|INPP4B_ENST00000508116.1_Missense_Mutation_p.G920R|INPP4B_ENST00000308502.4_Missense_Mutation_p.G920R	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	920					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCAGCTTTTCCATAAGTCCCC	0.368000													6	40					0	0	0.003080	0	0
GPR37	2861	broad.mit.edu	37	7	124386789	124386789	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:124386789G>A	ENST00000303921.2	-	2	2282	c.1632C>T	c.(1630-1632)gtC>gtT	p.V544V		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	544						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACTGGGGTGACACAGGACT	0.488000													13	59					0	0	0.001368	0	0
H3F3C	440093	broad.mit.edu	37	12	31944879	31944879	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:31944879G>A	ENST00000340398.3	-	1	296	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	74					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AATCCTGCGCGATCTCCCTCA	0.587000										HNSCC(67;0.2)			8	37					0	0	0.008291	0	0
RIBC2	26150	broad.mit.edu	37	22	45818182	45818182	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:45818182C>T	ENST00000342894.3	+	4	764	c.350C>T	c.(349-351)aCa>aTa	p.T117I	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.T185I			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	117										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCCTCTACACAGAGACAAGG	0.547000													60	140					0	0	0.003610	0	0
PLCG1	5335	broad.mit.edu	37	20	39801087	39801087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:39801087C>T	ENST00000373272.2	+	26	3337	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W	PLCG1_ENST00000244007.3_Missense_Mutation_p.R978W|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.R978W	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	978	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGCTTGCTACCGGGACATGTC	0.517000													7	21					0	0	0.001984	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	C	T	rs75633112		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:119727733C>T	ENST00000541757.1	+	4	389	c.9C>T	c.(7-9)ttC>ttT	p.F3F	MARCO_ENST00000327097.4_Silent_p.F81F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000													25	38					0	0	0.005443	0	0
LNP1	348801	broad.mit.edu	37	3	100174744	100174744	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:100174744C>T	ENST00000383693.3	+	4	1791	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	LNP1_ENST00000489752.1_Missense_Mutation_p.P184S	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	171										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ACACATGGCTCCCCTGTTTGA	0.423000													8	59					0	0	0.004482	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353748	77353748	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:77353748C>T	ENST00000282849.5	-	16	2948	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	844	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGCTTACTTCAAAGACCAGC	0.507000													14	43					0	0	0.002450	0	0
GCKR	2646	broad.mit.edu	37	2	27746184	27746184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:27746184G>A	ENST00000264717.2	+	19	1819	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	GCKR_ENST00000424318.2_Missense_Mutation_p.E396K	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	586					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTCGATCACTGAGGCTCAGGC	0.602000													6	21					0	0	0.001168	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192613	132192613	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:132192613G>A	ENST00000359827.3	-	2	1802	c.840C>T	c.(838-840)ctC>ctT	p.L280L	PLXNA4_ENST00000423507.2_Silent_p.L280L|PLXNA4_ENST00000321063.4_Silent_p.L280L|PLXNA4_ENST00000378539.5_Silent_p.L280L			Q9HCM2	PLXA4_HUMAN	plexin A4	280	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAAGCCTCACGAGCTTGGATG	0.552000													6	35					0	0	0.003080	0	0
CHD7	55636	broad.mit.edu	37	8	61735191	61735191	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:61735191C>T	ENST00000423902.2	+	12	3566	c.3087C>T	c.(3085-3087)ccC>ccT	p.P1029P	CHD7_ENST00000525508.1_Silent_p.P1029P|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1029	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCACAATCCCCAACTGGGAAA	0.423000													28	174					0	0	0.002836	0	0
RASSF2	9770	broad.mit.edu	37	20	4770301	4770301	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:4770301G>C	ENST00000379400.3	-	8	775	c.580C>G	c.(580-582)Cgc>Ggc	p.R194G	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194G	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CTGTTGATGCGGACGTTGGTG	0.547000													15	67					0	0	0.007413	0	0
ZNF226	7769	broad.mit.edu	37	19	44681407	44681407	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:44681407C>T	ENST00000590089.1	+	7	2359	c.1992C>T	c.(1990-1992)gtC>gtT	p.V664V	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.V664V|ZNF226_ENST00000337433.5_Silent_p.V664V			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ATCAAAAAGTCCACACTGGAG	0.473000													18	41					0	0	0.006122	0	0
NIN	51199	broad.mit.edu	37	14	51238084	51238084	+	Silent	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:51238084G>A	ENST00000245441.5	-	10	1274	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	NIN_ENST00000530997.2_Silent_p.L362L|NIN_ENST00000453196.1_Silent_p.L362L|NIN_ENST00000389868.3_Silent_p.L362L|NIN_ENST00000382041.3_Silent_p.L362L|NIN_ENST00000382043.4_Silent_p.L362L|NIN_ENST00000324330.9_Silent_p.L362L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	362					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAGCTGGCCAGAGCCGCCTGG	0.473000			T	PDGFRB	MPD								11	21					0	0	0.008291	0	0
VPS13B	157680	broad.mit.edu	37	8	100654325	100654325	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:100654325C>T	ENST00000358544.2	+	34	5693	c.5582C>T	c.(5581-5583)tCa>tTa	p.S1861L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1836L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1861					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATCGAAATCACAAGAACAG	0.338000													11	59					0	0	0.008291	0	0
SLC39A10	57181	broad.mit.edu	37	2	196571437	196571437	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:196571437C>T	ENST00000409086.3	+	4	1589	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Silent_p.F438F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	438					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCTTCAAATTCCTTCTTACAT	0.398000													14	27					0	0	0.004990	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36269472	36269472	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:36269472C>T	ENST00000007510.4	+	5	521	c.377C>T	c.(376-378)cCc>cTc	p.P126L	ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P126L|ARHGAP33_ENST00000221905.1_3'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	126	PX; atypical.|Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGGAGCTTCCCCCGCCCCCC	0.602000													13	38					0	0	0.001368	0	0
OR5K3	403277	broad.mit.edu	37	3	98109620	98109620	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:98109620C>T	ENST00000383695.1	+	1	111	c.111C>T	c.(109-111)atC>atT	p.I37I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TCTATCTGATCACCATGGTGG	0.403000													21	86					0	0	0.001882	0	0
OR5T2	219464	broad.mit.edu	37	11	55999895	55999895	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:55999895G>A	ENST00000313264.4	-	1	842	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAACCATAGGAGATCAGAAC	0.438000													14	56					0	0	0.002450	0	0
GPR157	80045	broad.mit.edu	37	1	9164555	9164555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:9164555G>A	ENST00000377411.4	-	4	1073	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	GPR157_ENST00000414642.2_Missense_Mutation_p.P246S	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GGAGCCTTGGGAGTGCCAGCC	0.597000													5	32					0	0	0.001984	0	0
C7	730	broad.mit.edu	37	5	40945458	40945458	+	Silent	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:40945458C>T	ENST00000313164.9	+	7	1085	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	242	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCAATGAAATCCATAAAGGAA	0.318000													3	17					0	0	0.000248	0	0
ESRRG	2104	broad.mit.edu	37	1	216680421	216680421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:216680421G>A	ENST00000391890.3	-	9	1706	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	ESRRG_ENST00000493603.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.R351*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.R413*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.R425*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.R390*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	413					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTGCCAGCTCGACGAGGGTCT	0.502000													16	50					0	0	0.004990	0	0
SLIT2	9353	broad.mit.edu	37	4	20512738	20512738	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:20512738G>A	ENST00000504154.1	+	11	1288	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	SLIT2_ENST00000273739.5_Missense_Mutation_p.G350R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G350R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G346R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	346					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCTTTCCAAGGACTACGCTC	0.383000													13	29					0	0	0.004007	0	0
CACNA1E	777	broad.mit.edu	37	1	181684515	181684515	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:181684515T>A	ENST00000526775.1	+	9	1378	c.1213T>A	c.(1213-1215)Tcc>Acc	p.S405T	CACNA1E_ENST00000367567.4_Missense_Mutation_p.S12T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S356T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S405T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S405T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S405T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S356T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	405					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCTGGAACATCCGCCTTAGA	0.378000													4	10					0	0	0.001168	0	0
TRIM69	140691	broad.mit.edu	37	15	45059759	45059759	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:45059759C>T	ENST00000558173.1	+	5	5425	c.680C>T	c.(679-681)tCt>tTt	p.S227F	TRIM69_ENST00000560442.1_Missense_Mutation_p.S227F|TRIM69_ENST00000338264.4_Missense_Mutation_p.S272F|TRIM69_ENST00000559390.1_Missense_Mutation_p.S431F|TRIM69_ENST00000561043.1_Missense_Mutation_p.S194F|TRIM69_ENST00000558329.1_Missense_Mutation_p.S210F|TRIM69_ENST00000329464.4_Missense_Mutation_p.S431F			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	431					apoptosis	nuclear speck	zinc ion binding	p.S431F(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATTTGCCTTCTTTCAGTCTG	0.453000													15	44					0	0	0.003163	0	0
ZP2	7783	broad.mit.edu	37	16	21208827	21208827	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:21208827C>T	ENST00000574002.1	-	20	2694	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.E738K|ZP2_ENST00000574091.1_Missense_Mutation_p.E729K			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	738					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	p.E738K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCCTTTTCTCGTACAGGTAG	0.453000													8	45					0	0	0.004482	0	0
FAM163A	148753	broad.mit.edu	37	1	179783034	179783034	+	Missense_Mutation	SNP	G	G	A	rs145701153		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:179783034G>A	ENST00000341785.4	+	5	610	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	72						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGCCCTGGACGGCAGAGGCAG	0.687000													13	32					0	0	0.001855	0	0
ANO4	121601	broad.mit.edu	37	12	101336293	101336293	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:101336293G>A	ENST00000392979.3	+	4	692	c.331G>A	c.(331-333)Gga>Aga	p.G111R	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.G146R|ANO4_ENST00000538618.1_Missense_Mutation_p.G312R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	146						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAGAGCAGAAGGATTGCAAAT	0.353000										HNSCC(74;0.22)			21	63					0	0	0.001882	0	0
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:31722980G>A	ENST00000266269.5	-	5	2590	c.1961C>T	c.(1960-1962)tCt>tTt	p.S654F	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.S608F|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	654					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTCGAGGAGAGACATGTTCTG	0.567000													24	51					0	0	0.004656	0	0
KRT37	8688	broad.mit.edu	37	17	39577662	39577662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:39577662C>T	ENST00000225550.3	-	6	1197	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	400	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GTGGCAATCTCGTTCTCCAAC	0.557000													12	47					0	0	0.001368	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279063	36279063	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:36279063C>T	ENST00000007510.4	+	21	3740	c.3596C>T	c.(3595-3597)cCc>cTc	p.P1199L	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1035L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1038L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1199					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGTTCAGATCCCGGTCCCCCA	0.687000													5	27					0	0	0.001984	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:3387672C>T	ENST00000011898.5	+	4	310	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000537971.1_Missense_Mutation_p.S50L	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	50						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000													16	60					0	0	0.003163	0	0
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:110906426_110906427insA	ENST00000369779.4	-	9	1674_1675	c.1425_1426insT	c.(1423-1428)tttaccfs	p.T476fs	SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	476						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391													7	40	---	---	---	---					
ANKRD20A12P	100874392	broad.mit.edu	37	1	142720897	142720898	+	RNA	INS	-	-	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:142720897_142720898insA	ENST00000595144.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													10	28	---	---	---	---					
ALS2CR11	151254	broad.mit.edu	37	2	202430447	202430450	+	Splice_Site	DEL	TTTA	TTTA	-			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:202430447_202430450delTTTA	ENST00000439140.1	-	9	1022		c.e9+1		ALS2CR11_ENST00000439802.1_Splice_Site|ALS2CR11_ENST00000450242.1_Splice_Site|ALS2CR11_ENST00000286195.3_Splice_Site	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11									p.?(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						tttttttttttttACCTTTCCCGG	0.368													2	4	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184040958	184040959	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:184040958_184040959insT	ENST00000342981.4	+	13	2431_2432	c.2017_2018insT	c.(2017-2019)tggfs	p.W673fs	EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.W633fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.W673fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.W633fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.W586fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.W680fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.W586fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.W680fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.W477fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.W477fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.W673fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.W509fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.W680fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.W509fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	673	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTTGCCAACCTTGGCCGGACA	0.614													36	109	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													7	375	---	---	---	---					
PSMD10	5716	broad.mit.edu	37	X	107331269	107331269	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:107331269delG	ENST00000217958.3	-	3	371	c.274delC	c.(274-276)ttfs	p.L93fs	PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000340200.5_Frame_Shift_Del_p.L60fs|PSMD10_ENST00000361815.5_Frame_Shift_Del_p.L93fs|PSMD10_ENST00000372296.1_Intron	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	93	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTCCCAGAAGGGCTTTTACA	0.453													34	45	---	---	---	---