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
MYH6	4624	broad.mit.edu	37	14	23870013	23870013	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:23870013A>T	ENST00000405093.3	-	13	1385	c.1315T>A	c.(1315-1317)Tgg>Agg	p.W439R	MYH6_ENST00000356287.3_Missense_Mutation_p.W439R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	439	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCACCATCCAGTTGAACATC	0.567000													34	54					0	0	0.003755	0	0
ATP10A	57194	broad.mit.edu	37	15	25940151	25940151	+	Missense_Mutation	SNP	C	C	T	rs150976669		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:25940151C>T	ENST00000356865.6	-	14	3014	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	968					ATP biosynthetic process|regulation of cell shape	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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGGTCTGCGGCCAGAGGC	0.602000													10	66					0	0	0.008291	0	0
CD1C	911	broad.mit.edu	37	1	158263029	158263029	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158263029C>A	ENST00000368170.3	+	5	1196	c.917C>A	c.(916-918)gCc>gAc	p.A306D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	306					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AATTGGATTGCCTTGGTAGTG	0.398000													60	197					4.66136e-34	8.90021e-34	0.003610	1	0
HERPUD2	64224	broad.mit.edu	37	7	35674850	35674850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:35674850C>T	ENST00000396081.1	-	6	1640	c.836G>A	c.(835-837)tGg>tAg	p.W279*	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.W279*	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	279					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CGTGTACATCCAGTCTAGCCA	0.433000													65	39					0	0	0.003610	0	0
OR10T2	128360	broad.mit.edu	37	1	158368630	158368630	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158368630C>G	ENST00000334438.1	-	1	626	c.627G>C	c.(625-627)atG>atC	p.M209I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GAAAAGGCACCATAATTACCA	0.458000													9	54					0	0	0.006214	0	0
GSTA5	221357	broad.mit.edu	37	6	52697722	52697722	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:52697722C>A	ENST00000370989.1	-	6	639	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.V161L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	161	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AAAAGTTCCACCAGGTGAATG	0.502000													41	90					9.62906e-15	1.62056e-14	0.006230	1	0
MC5R	4161	broad.mit.edu	37	18	13826521	13826521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:13826521C>T	ENST00000324750.3	+	1	979	c.757C>T	c.(757-759)Ccg>Tcg	p.P253S		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	253					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTGCTGGGCCCCGTTCTTCCT	0.577000													50	64					0	0	0.003610	0	0
LGSN	51557	broad.mit.edu	37	6	63990707	63990707	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:63990707G>T	ENST00000370657.4	-	4	782	c.749C>A	c.(748-750)aCt>aAt	p.T250N	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	250					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATTGGCTCCAGTGTGATACAA	0.388000													19	28					2.39187e-15	4.05687e-15	0.008871	1	0
DOT1L	84444	broad.mit.edu	37	19	2216357	2216357	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:2216357C>T	ENST00000398665.3	+	20	2037	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	667						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)		CGCCTGACGACGCCCTGTCCC	0.657000													17	28					0	0	0.007413	0	0
GREB1	9687	broad.mit.edu	37	2	11750844	11750844	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:11750844G>T	ENST00000381486.2	+	18	2997	c.2697G>T	c.(2695-2697)agG>agT	p.R899S	GREB1_ENST00000234142.5_Missense_Mutation_p.R899S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	899						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGTGATCAGGACCTTTGTTC	0.642000													13	40					1.5842e-08	2.41702e-08	0.001855	1	0
CLVS2	134829	broad.mit.edu	37	6	123369837	123369837	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:123369837C>T	ENST00000275162.4	+	4	1970	c.635C>T	c.(634-636)aCc>aTc	p.T212I	CLVS2_ENST00000368438.1_Missense_Mutation_p.T66I	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	212	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCCCTGTACACCGTGATCCGG	0.393000													61	127					0	0	0.003610	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591325	81591325	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:81591325C>T	ENST00000356860.3	-	36	3189	c.2851G>A	c.(2851-2853)Gat>Aat	p.D951N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963N|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTGAAGTCATCATCCTCCATC	0.483000													56	544					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228973575	228973575	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:228973575T>A	ENST00000392056.3	-	3	265	c.219A>T	c.(217-219)gtA>gtT	p.V73V	SPHKAP_ENST00000344657.5_Silent_p.V73V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	73						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGTCTTCTACAAAACCAA	0.468000													69	37					0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	120989055	120989055	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:120989055G>A	ENST00000392793.1	+	7	1102	c.831G>A	c.(829-831)ttG>ttA	p.L277L	TECTA_ENST00000264037.2_Silent_p.L277L			O75443	TECTA_HUMAN	tectorin alpha	277	VWFC.				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)		GGGATGACTTGAACTGCACCG	0.512000													18	16					0	0	0.007413	0	0
KLHL5	51088	broad.mit.edu	37	4	39122661	39122661	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:39122661C>G	ENST00000261425.3	+	12	2257	c.2105C>G	c.(2104-2106)gCt>gGt	p.A702G	KLHL5_ENST00000261426.5_Missense_Mutation_p.A687G|KLHL5_ENST00000508137.2_Missense_Mutation_p.A561G|KLHL5_ENST00000504108.1_Missense_Mutation_p.A748G|KLHL5_ENST00000359687.2_Intron|RP11-360F5.1_ENST00000509449.1_RNA	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	748						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGAGCTGGAGCTTGTGTTGTG	0.363000													8	33					0	0	0.006214	0	0
TNIK	23043	broad.mit.edu	37	3	170819397	170819397	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:170819397A>G	ENST00000436636.2	-	22	2776	c.2432T>C	c.(2431-2433)cTa>cCa	p.L811P	TNIK_ENST00000470834.1_Missense_Mutation_p.L774P|TNIK_ENST00000538048.1_Missense_Mutation_p.L763P|TNIK_ENST00000460047.1_Missense_Mutation_p.L748P|TNIK_ENST00000475336.1_Missense_Mutation_p.L719P|TNIK_ENST00000369326.5_Missense_Mutation_p.L789P|TNIK_ENST00000357327.5_Missense_Mutation_p.L782P|TNIK_ENST00000341852.6_Missense_Mutation_p.L727P|TNIK_ENST00000284483.8_Missense_Mutation_p.L803P|TNIK_ENST00000488470.1_Missense_Mutation_p.L756P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	811	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTCTCTTAGTTCTTTGGC	0.448000													51	181					0	0	0.003610	0	0
NKX6-2	84504	broad.mit.edu	37	10	134598892	134598892	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:134598892G>T	ENST00000368592.5	-	2	574	c.471C>A	c.(469-471)ggC>ggA	p.G157G		NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN	NK6 homeobox 2	157						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		AGATCTGCTGGCCCGAGAAGG	0.692000													7	8					8.12818e-05	0.000117168	0.001984	1	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438763	6438763	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:6438763G>A	ENST00000162749.2	-	10	1382	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	TNFRSF1A_ENST00000540022.1_Silent_p.A318A	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	361	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCTCCACCACGGCGTACAGCG	0.726000													3	14					0	0	0.004672	0	0
GLI2	2736	broad.mit.edu	37	2	121740372	121740372	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:121740372T>C	ENST00000452319.1	+	11	1659	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	GLI2_ENST00000361492.4_Silent_p.Y533Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.Y205Y			P10070	GLI2_HUMAN	GLI family zinc finger 2	533					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGAAGCCATATGTGTGTGAGC	0.617000													4	39					0	0	0.001168	0	0
SAR1A	56681	broad.mit.edu	37	10	71913632	71913632	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:71913632G>A	ENST00000373238.1	-	6	799	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	SAR1A_ENST00000373241.4_Missense_Mutation_p.R148C|SAR1A_ENST00000458634.2_Missense_Mutation_p.R105C|SAR1A_ENST00000373242.1_Missense_Mutation_p.R148C|SAR1A_ENST00000431664.2_Missense_Mutation_p.R148C			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	148					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AATATCTCACGGAGTTTTTCT	0.338000													31	196					0	0	0.003755	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368176	18368176	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:18368176G>A	ENST00000392413.3	-	4	4133	c.3918C>T	c.(3916-3918)gcC>gcT	p.A1306A	KIAA1683_ENST00000600328.2_Silent_p.A1119A|KIAA1683_ENST00000600359.2_Silent_p.A1073A	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	109						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGACTGGATGGCTGTGGCCG	0.652000													19	40					0	0	0.002299	0	0
HCN4	10021	broad.mit.edu	37	15	73621967	73621967	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:73621967C>T	ENST00000261917.3	-	4	2530	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	513					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGGCAGTGGCGTGGCCAATG	0.652000													12	61					0	0	0.000978	0	0
SNRPN	6638	broad.mit.edu	37	15	25213119	25213119	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:25213119C>A	ENST00000554227.2	+	0	376				SNRPN_ENST00000400097.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000346403.6_De_novo_Start_InFrame|SNURF_ENST00000577949.1_Missense_Mutation_p.P51T|SNRPN_ENST00000577565.1_De_novo_Start_InFrame|SNRPN_ENST00000400100.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000400098.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338094.6_Missense_Mutation_p.P51T|SNRPN_ENST00000390687.4_De_novo_Start_OutOfFrame|SNURF_ENST00000338327.4_Missense_Mutation_p.P51T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAGCAAGTACCTGTGGTGGA	0.433000									Prader-Willi syndrome				41	70					1.3203e-36	2.57361e-36	0.003610	1	0
ZRANB2	9406	broad.mit.edu	37	1	71544178	71544178	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:71544178G>C	ENST00000370920.3	-	3	481	c.180C>G	c.(178-180)agC>agG	p.S60R	ZRANB2_ENST00000254821.6_Missense_Mutation_p.S60R	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	60					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ATAGGCCTCGGCTCTTTTCTG	0.378000													8	59					0	0	0.008291	0	0
TPGS2	25941	broad.mit.edu	37	18	34376776	34376776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:34376776G>A	ENST00000334295.4	-	7	1322	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000593035.1_Missense_Mutation_p.R264W|TPGS2_ENST00000383056.3_Missense_Mutation_p.R256W|TPGS2_ENST00000587129.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	299						cytoplasm|microtubule											GCTCACTTCCGGGTGGGGTTT	0.617000													11	98					0	0	0.000978	0	0
SPAG17	200162	broad.mit.edu	37	1	118537063	118537063	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:118537063C>A	ENST00000336338.5	-	35	5209	c.5144G>T	c.(5143-5145)cGg>cTg	p.R1715L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1715						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGACCTTGACCGGAGATTAGG	0.423000													13	12					1.49906e-05	2.2047e-05	0.002450	1	0
NBPF1	55672	broad.mit.edu	37	1	16890588	16890588	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:16890588T>A	ENST00000430580.2	-	29	4157	c.3270A>T	c.(3268-3270)ctA>ctT	p.L1090L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1070	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGAGTCAGGTAGTTCAAAGT	0.463000													75	1039					0	0	0.003610	0	0
CDH2	1000	broad.mit.edu	37	18	25572629	25572629	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:25572629G>C	ENST00000269141.3	-	9	1757	c.1334C>G	c.(1333-1335)aCc>aGc	p.T445S	CDH2_ENST00000399380.3_Missense_Mutation_p.T414S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	445	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGACCACGGTGACTAACCC	0.522000													26	57					0	0	0.003954	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7577547C>T	ENST00000420246.2	-	7	866	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	45					0	0	0.004990	0	0
TBC1D4	9882	broad.mit.edu	37	13	75936702	75936702	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:75936702C>T	ENST00000377636.3	-	2	886	c.540G>A	c.(538-540)gcG>gcA	p.A180A	TBC1D4_ENST00000431480.2_Silent_p.A180A|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.A180A	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	180	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTTTCATGGCCGCTTTAGATA	0.413000													69	151					0	0	0.003610	0	0
STRC	161497	broad.mit.edu	37	15	43910166	43910166	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:43910166C>A	ENST00000450892.2	-	2	530	c.453G>T	c.(451-453)ggG>ggT	p.G151G	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	151					sensory perception of sound	cell surface		p.G151G(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TAGGGGGGCCCCCAGGAACTA	0.637000													22	76					2.98393e-07	4.46905e-07	0.002780	1	0
TRIML2	205860	broad.mit.edu	37	4	189012609	189012609	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:189012609C>A	ENST00000512729.1	-	7	1456	c.1082G>T	c.(1081-1083)tGt>tTt	p.C361F	TRIML2_ENST00000326754.3_Missense_Mutation_p.C386F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	361	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTGGGATACAGAGGGAAAA	0.463000													45	71					1.89013e-27	3.5467e-27	0.003610	1	0
ZBED2	79413	broad.mit.edu	37	3	111312889	111312889	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:111312889A>T	ENST00000317012.4	-	2	1168	c.160T>A	c.(160-162)Ttc>Atc	p.F54I	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	54							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GCCTCAGAGAACCGGGTGCCC	0.572000													25	44					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179498188	179498188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:179498188C>T	ENST00000589042.1	-	232	43122	c.42898G>A	c.(42898-42900)Gtg>Atg	p.V14300M	TTN_ENST00000359218.5_Missense_Mutation_p.V5360M|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12659M|TTN_ENST00000460472.2_Missense_Mutation_p.V5235M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11732M|TTN_ENST00000342175.6_Missense_Mutation_p.V5427M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12659	Fibronectin type-III 3.						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)			CAGTCACACACATATTCGCCT	0.413000													52	22					0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597550	31597550	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:31597550C>T	ENST00000376033.2	+	14	2416	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P728S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	728	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GATGATTCCTCCTTATGTGGA	0.637000													12	50					0	0	0.000978	0	0
MAP3K6	9064	broad.mit.edu	37	1	27684364	27684364	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:27684364C>A	ENST00000374040.3	-	21	3155	c.2895G>T	c.(2893-2895)gtG>gtT	p.V965V	MAP3K6_ENST00000493901.1_Silent_p.V973V|MAP3K6_ENST00000357582.2_Silent_p.V973V			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	973					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCCTCGGGCACCCTGGGCA	0.657000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	2					0.00116845	0.00165868	0.001168	1	0
DCHS1	8642	broad.mit.edu	37	11	6661270	6661270	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:6661270G>T	ENST00000299441.3	-	2	1986	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGAGGTGGGGTCAATGG	0.587000													18	14					1.67942e-08	2.55037e-08	0.006122	1	0
SLC25A51	92014	broad.mit.edu	37	9	37888027	37888027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:37888027C>T	ENST00000377716.2	-	3	1264	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.R174Q|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R174Q			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	174					transport	integral to membrane|mitochondrial inner membrane											CACCAAGCCTCGATAATACTC	0.463000													20	61					0	0	0.001882	0	0
LIX1	167410	broad.mit.edu	37	5	96443064	96443064	+	Splice_Site	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:96443064G>T	ENST00000274382.4	-	3	682	c.387_splice	c.e3+1	p.S129_splice	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	129										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GGGTACTCACGCTGGTGGAGG	0.463000													24	25					5.45024e-15	9.1964e-15	0.003330	1	0
OR13A1	79290	broad.mit.edu	37	10	45799384	45799384	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:45799384C>A	ENST00000553795.1	-	4	795	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	OR13A1_ENST00000536058.1_Missense_Mutation_p.A163S|OR13A1_ENST00000374401.2_Missense_Mutation_p.A163S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ACGGCTGTGGCCAGCCCGCTG	0.597000													18	40					1.87028e-06	2.76937e-06	0.001882	1	0
NDUFAF1	51103	broad.mit.edu	37	15	41688684	41688684	+	Splice_Site	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:41688684C>A	ENST00000260361.4	-	2	955		c.e2+1			NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1						mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GCCTCACCTACCCTTGGAATC	0.468000													19	34					1.67942e-08	2.55037e-08	0.006122	1	0
SCN4A	6329	broad.mit.edu	37	17	62021165	62021165	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:62021165A>T	ENST00000435607.1	-	22	4034	c.3958T>A	c.(3958-3960)Tat>Aat	p.Y1320N	SCN4A_ENST00000578147.1_Missense_Mutation_p.Y1320N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1320					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGGCGTTATAGTATTTCTTC	0.547000													13	19					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	8987085	8987085	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8987085G>A	ENST00000397910.4	-	69	42108	c.41905C>T	c.(41905-41907)Ctg>Ttg	p.L13969L	MUC16_ENST00000380951.5_Silent_p.L610L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13994	SEA 13.			Missing (in Ref. 3; AAK74120).	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						CGTGCACCCAGGCTGCTCCTC	0.602000													3	10					0	0	0.000602	0	0
SCAMP2	10066	broad.mit.edu	37	15	75142867	75142867	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:75142867T>C	ENST00000268099.9	-	6	729	c.620A>G	c.(619-621)tAt>tGt	p.Y207C		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	207	Interaction with SLC9A7.				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AAAGGCCTTATAGATGGGTCG	0.562000													4	157					0	0	0.000602	0	0
PRKCG	5582	broad.mit.edu	37	19	54401709	54401709	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54401709C>G	ENST00000263431.3	+	11	1390	c.1108C>G	c.(1108-1110)Cgc>Ggc	p.R370G	PRKCG_ENST00000542049.1_Missense_Mutation_p.R257G|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370G|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCTGGCCGAGCGCAGGGGCTC	0.577000													16	18					0	0	0.004990	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100724	89100724	+	RNA	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:89100724C>T	ENST00000393525.3	+	0	1198																											GTGCAGAAAGCGCCGTCTTTT	0.368000													40	122					0	0	0.002222	0	0
AKAP12	9590	broad.mit.edu	37	6	151671537	151671537	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:151671537C>T	ENST00000402676.2	+	4	2251	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C	AKAP12_ENST00000354675.6_Missense_Mutation_p.R573C|AKAP12_ENST00000359755.5_Missense_Mutation_p.R566C|AKAP12_ENST00000253332.1_Missense_Mutation_p.R671C	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	671					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAACCAAAGCGCAAGGTGGA	0.507000													7	57					0	0	0.003080	0	0
ANO5	203859	broad.mit.edu	37	11	22301227	22301227	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:22301227G>T	ENST00000324559.8	+	22	2975	c.2658G>T	c.(2656-2658)gaG>gaT	p.E886D		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	886						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATTAAAAGAGAACTTGGGAA	0.348000													17	38					1.5739e-10	2.51901e-10	0.004007	1	0
PKHD1	5314	broad.mit.edu	37	6	51695776	51695776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:51695776C>T	ENST00000371117.3	-	52	8460	c.8185G>A	c.(8185-8187)Gcc>Acc	p.A2729T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2729T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2729					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCAGGGGCAGAGGTAGAA	0.393000													15	32					0	0	0.003163	0	0
PXN	5829	broad.mit.edu	37	12	120650198	120650198	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:120650198G>C	ENST00000397506.3	-	9	2184	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	PXN_ENST00000536957.1_Silent_p.L563L|PXN_ENST00000267257.7_Silent_p.L579L|PXN_ENST00000228307.7_Silent_p.L565L|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000458477.2_Silent_p.L398L|PXN_ENST00000424649.2_Silent_p.L531L			P49023	PAXI_HUMAN	paxillin	565	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGCTGCTTGAGGCAGAAGG	0.587000													4	37					0	0	0.000248	0	0
PTPN13	5783	broad.mit.edu	37	4	87610317	87610317	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:87610317A>G	ENST00000436978.1	+	5	1000	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	PTPN13_ENST00000316707.6_Missense_Mutation_p.K174E|PTPN13_ENST00000411767.2_Missense_Mutation_p.K174E|PTPN13_ENST00000511467.1_Missense_Mutation_p.K174E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K174E|PTPN13_ENST00000502971.1_Missense_Mutation_p.K174E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	174	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACACTTGGTAAAACTGGTTCT	0.373000													52	117					0	0	0.003610	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151055105	151055105	+	Silent	SNP	C	C	T	rs141401834		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:151055105C>T	ENST00000367328.1	+	3	600	c.288C>T	c.(286-288)aaC>aaT	p.N96N	PLEKHG1_ENST00000358517.2_Silent_p.N96N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	96					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGGACTCAAACGGGGCACCCA	0.592000													9	51					0	0	0.004482	0	0
SNTB1	6641	broad.mit.edu	37	8	121587411	121587411	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:121587411T>C	ENST00000395601.3	-	5	1465	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	SNTB1_ENST00000517992.1_Missense_Mutation_p.K351E|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	351	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAAGGTCTTTCTCAGTCAGC	0.512000													55	99					0	0	0.003610	0	0
MFSD2B	388931	broad.mit.edu	37	2	24247090	24247090	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:24247090C>T	ENST00000338315.4	+	13	1439	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	MFSD2B_ENST00000406420.3_Missense_Mutation_p.S480F			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	480					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ATGGTCGGCTCCACTCCAAAG	0.647000													3	16					0	0	0.004672	0	0
CHRM3	1131	broad.mit.edu	37	1	240072502	240072502	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:240072502G>A	ENST00000255380.4	+	5	2530	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	584					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTTCACAAGCGCGCACCCGAG	0.522000													9	40					0	0	0.004482	0	0
TMEM215	401498	broad.mit.edu	37	9	32784253	32784253	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:32784253T>A	ENST00000342743.5	+	2	437	c.72T>A	c.(70-72)ggT>ggA	p.G24G		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	24						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TCGTCTTTGGTTTCATGTTCA	0.582000													25	16					0	0	0.003330	0	0
OLIG3	167826	broad.mit.edu	37	6	137814987	137814987	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:137814987G>A	ENST00000367734.2	-	1	544	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	107	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCATGACTTCGCGCAGCCCGT	0.612000													17	73					0	0	0.004007	0	0
ATP13A5	344905	broad.mit.edu	37	3	192994612	192994612	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:192994612G>T	ENST00000342358.4	-	29	3440	c.3323C>A	c.(3322-3324)cCa>cAa	p.P1108Q	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1108					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGTTATGGTTGGGATCAACTG	0.308000													16	44					7.07596e-05	0.00010268	0.006122	1	0
TWF2	11344	broad.mit.edu	37	3	52263103	52263103	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:52263103G>A	ENST00000305533.5	-	9	1240	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTATGGCCCCGCTTGCCCCCT	0.672000													9	43					0	0	0.006214	0	0
PLEC	5339	broad.mit.edu	37	8	144996154	144996154	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144996154G>C	ENST00000322810.4	-	32	8415	c.8246C>G	c.(8245-8247)tCa>tGa	p.S2749*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.S2580*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.S2616*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.S2612*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.S2635*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.S2598*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.S2612*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.S2639*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.S2590*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2749	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTCCTCTGAGTGCGCCAG	0.692000													3	34					0	0	0.000248	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84603737	84603737	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:84603737G>A	ENST00000344803.2	+	1	51	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCAGACCATGGAGAATATCCT	0.502000													28	34					0	0	0.001786	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	43					0	0	0.004672	0	0
RXFP1	59350	broad.mit.edu	37	4	159568073	159568073	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:159568073C>A	ENST00000307765.5	+	16	1727	c.1476C>A	c.(1474-1476)gcC>gcA	p.A492A	RXFP1_ENST00000470033.1_Silent_p.A459A|RXFP1_ENST00000460056.2_Silent_p.A411A|RXFP1_ENST00000448688.2_Silent_p.A387A|RXFP1_ENST00000343542.5_Silent_p.A444A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	492						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GATCTTTGGCCATTCTGTCCA	0.408000													29	21					1.08312e-15	1.84668e-15	0.001786	1	0
MARCH1	55016	broad.mit.edu	37	4	164534544	164534544	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:164534544G>T	ENST00000339875.5	-	1	142	c.113C>A	c.(112-114)gCa>gAa	p.A38E	MARCH1_ENST00000514618.1_Splice_Site_p.A55_splice|MARCH1_ENST00000274056.7_Splice_Site_p.A55_splice|MARCH1_ENST00000503008.1_Splice_Site_p.A55_splice	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	55	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGGCTGCTTGCCTGGAGAAA	0.413000													18	19					3.51602e-12	5.76874e-12	0.008871	1	0
CCDC60	160777	broad.mit.edu	37	12	119978426	119978426	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:119978426G>A	ENST00000327554.2	+	14	2024	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	520										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAGTTTGTGCGAGAACACATC	0.512000													12	92					0	0	0.002450	0	0
DNAH2	146754	broad.mit.edu	37	17	7727960	7727960	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7727960G>A	ENST00000572933.1	+	77	13228	c.11768G>A	c.(11767-11769)cGc>cAc	p.R3923H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3923H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3923	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATCCTTCCGCCTCTGGCTC	0.552000													10	78					0	0	0.006214	0	0
NDN	4692	broad.mit.edu	37	15	23931618	23931618	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:23931618G>A	ENST00000331837.4	-	1	832	c.747C>T	c.(745-747)cgC>cgT	p.R249R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	249	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTATGGGACGCGCTGGTACT	0.587000									Prader-Willi syndrome				20	21					0	0	0.001882	0	0
NBEA	26960	broad.mit.edu	37	13	35735894	35735894	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:35735894A>T	ENST00000540320.1	+	23	4403	c.3869A>T	c.(3868-3870)cAg>cTg	p.Q1290L	NBEA_ENST00000400445.3_Missense_Mutation_p.Q1290L|NBEA_ENST00000379939.2_Missense_Mutation_p.Q1290L|NBEA_ENST00000310336.4_Missense_Mutation_p.Q1290L			Q8NFP9	NBEA_HUMAN	neurobeachin	1290						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGGCTGTGCAGGGTCGGTCT	0.413000													6	19					0	0	0.001168	0	0
PIWIL2	55124	broad.mit.edu	37	8	22167481	22167481	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:22167481G>T	ENST00000356766.6	+	15	1842	c.1694G>T	c.(1693-1695)gGa>gTa	p.G565V	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G565V|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G565V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	565					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TAGATTGAAGGACGTGTTCTG	0.388000													28	23					2.12542e-12	3.49596e-12	0.006320	1	0
WNK1	65125	broad.mit.edu	37	12	990928	990928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:990928C>T	ENST00000537687.1	+	13	4605	c.3962C>T	c.(3961-3963)cCg>cTg	p.P1321L	WNK1_ENST00000315939.6_Missense_Mutation_p.P1061L|WNK1_ENST00000340908.4_Missense_Mutation_p.P654L|WNK1_ENST00000530271.2_Missense_Mutation_p.P1559L|WNK1_ENST00000535572.1_Missense_Mutation_p.P814L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1061					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P1061L(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCTACCCAGCCGACCACTTTG	0.473000													21	100					0	0	0.003330	0	0
AP4M1	9179	broad.mit.edu	37	7	99702922	99702922	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:99702922G>A	ENST00000429084.1	+	10	966	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	AP4M1_ENST00000359593.4_Missense_Mutation_p.E263K|AP4M1_ENST00000422582.1_Missense_Mutation_p.E135K|AP4M1_ENST00000421755.1_Missense_Mutation_p.E263K			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	263	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGACGAATTTGAGTC	0.542000													22	113					0	0	0.004656	0	0
MED24	9862	broad.mit.edu	37	17	38189629	38189629	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:38189629G>T	ENST00000394126.1	-	6	1133	c.715C>A	c.(715-717)Cag>Aag	p.Q239K	MED24_ENST00000394127.2_Missense_Mutation_p.Q201K|MED24_ENST00000394128.2_Missense_Mutation_p.Q214K|MED24_ENST00000356271.3_Missense_Mutation_p.Q201K|MED24_ENST00000501516.3_Missense_Mutation_p.Q233K			O75448	MED24_HUMAN	mediator complex subunit 24	214					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGCTCGGCCTGACTCCGGAGC	0.592000													10	3					9.70103e-10	1.52278e-09	0.008291	1	0
RGAG1	57529	broad.mit.edu	37	X	109695339	109695339	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:109695339C>T	ENST00000465301.2	+	3	1740	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	RGAG1_ENST00000540313.1_Silent_p.S498S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	498										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAAAGATGTCCACGCCACTGA	0.507000													96	33					0	0	0.003610	0	0
COPB1	1315	broad.mit.edu	37	11	14496152	14496152	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:14496152C>G	ENST00000249923.3	-	14	1926	c.1626G>C	c.(1624-1626)ttG>ttC	p.L542F	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L542F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	542					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGAATCCTCTCAAGGGAGGTC	0.443000													28	133					0	0	0.003271	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416002	5416002	+	Missense_Mutation	SNP	G	G	A	rs150101312		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:5416002G>A	ENST00000341928.2	-	13	2222	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R628C|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	628	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GACGGTGAGCGGATCGGGAGG	0.537000													10	89					0	0	0.000978	0	0
HCN1	348980	broad.mit.edu	37	5	45396705	45396705	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45396705C>A	ENST00000303230.4	-	4	1176	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	373						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCATGGTAATCCAGAGGTCAG	0.532000													21	64					2.4624e-09	3.82844e-09	0.008871	1	0
DMD	1756	broad.mit.edu	37	X	32536238	32536238	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:32536238C>G	ENST00000357033.4	-	18	2385	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	DMD_ENST00000378677.2_Missense_Mutation_p.D723H|DMD_ENST00000288447.4_Missense_Mutation_p.D719H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	727					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTTATATCAACATCCAAC	0.333000													11	5					0	0	0.000978	0	0
ZNF366	167465	broad.mit.edu	37	5	71756259	71756259	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:71756259G>A	ENST00000318442.5	-	2	1555	c.1065C>T	c.(1063-1065)caC>caT	p.H355H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTGGCTTCGTGGGCCTTGA	0.662000													5	8					0	0	0.001168	0	0
CRX	1406	broad.mit.edu	37	19	48342676	48342676	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:48342676A>T	ENST00000221996.7	+	4	558	c.352A>T	c.(352-354)Aag>Tag	p.K118*	CRX_ENST00000539067.1_Nonsense_Mutation_p.K118*|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	118					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCGGCCTGCCAAGAGGAAGGC	0.647000													35	24					0	0	0.004289	0	0
OR51G2	81282	broad.mit.edu	37	11	4936073	4936073	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:4936073G>T	ENST00000322013.3	-	1	849	c.821C>A	c.(820-822)cCc>cAc	p.P274H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCAGGTGGGGTGCCTGCTT	0.507000													28	16					1.16021e-09	1.81682e-09	0.007291	1	0
CSMD3	114788	broad.mit.edu	37	8	114111144	114111144	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:114111144G>T	ENST00000297405.5	-	5	1002	c.758C>A	c.(757-759)tCc>tAc	p.S253Y	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S253Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S213Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S253Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	253	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAGGGCTGGATATGATGCC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	35					0.00307968	0.00433412	0.003080	1	0
DHX30	22907	broad.mit.edu	37	3	47887994	47887994	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:47887994G>A	ENST00000446256.2	+	12	1887	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	DHX30_ENST00000348968.4_Missense_Mutation_p.E450K|DHX30_ENST00000457607.1_Missense_Mutation_p.E506K|DHX30_ENST00000445061.1_Missense_Mutation_p.E478K	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	478						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTATGTGACCGAGGGCCGAGG	0.642000													19	45					0	0	0.008871	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987660	50987660	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:50987660C>T	ENST00000395676.2	+	1	1199	c.1065C>T	c.(1063-1065)taC>taT	p.Y355Y		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	355										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCACAACTACCTGTTTCTGG	0.647000													31	83					0	0	0.003755	0	0
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:86838537C>T	ENST00000441037.2	+	16	2229	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	AGBL1_ENST00000421325.2_Missense_Mutation_p.R712W|AGBL1_ENST00000389298.3_Missense_Mutation_p.R443W	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468000													11	86					0	0	0.008291	0	0
WISP1	8840	broad.mit.edu	37	8	134225121	134225121	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:134225121C>A	ENST00000250160.6	+	2	190	c.84C>A	c.(82-84)gcC>gcA	p.A28A	WISP1_ENST00000517423.1_Silent_p.A28A|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Silent_p.A28A|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	28					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCTCTCCAGCCCCTACGACCA	0.647000													7	9					8.12818e-05	0.000117168	0.001984	1	0
SPTA1	6708	broad.mit.edu	37	1	158607983	158607983	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158607983C>T	ENST00000368148.3	-	36	5209	c.5029G>A	c.(5029-5031)Ggg>Agg	p.G1677R	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1677R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1677					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G1677R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGAAAGTCCCGCTGGAGAGC	0.413000													22	45					0	0	0.001882	0	0
FAM189A2	9413	broad.mit.edu	37	9	72006633	72006633	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:72006633G>C	ENST00000257515.8	+	11	1686	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G	FAM189A2_ENST00000303068.7_Silent_p.G257G|FAM189A2_ENST00000455972.1_Silent_p.G422G|FAM189A2_ENST00000377216.3_Silent_p.G209G	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	422						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACCAGCGGGGAGGCCCCGAG	0.672000													3	25					0	0	0.004672	0	0
ZNF236	7776	broad.mit.edu	37	18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:74625839G>A	ENST00000253159.8	+	18	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1016K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1014					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483000													21	26					0	0	0.003954	0	0
PRAM1	84106	broad.mit.edu	37	19	8555792	8555792	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8555792C>T	ENST00000423345.4	-	6	2242	c.1722G>A	c.(1720-1722)agG>agA	p.R574R	PRAM1_ENST00000255612.3_Silent_p.R573R			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	622							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCCGGAACTCCCTCTCGGCCT	0.592000													10	258					0	0	0.008291	0	0
PLEC	5339	broad.mit.edu	37	8	144992693	144992693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144992693G>A	ENST00000322810.4	-	32	11876	c.11707C>T	c.(11707-11709)Cgg>Tgg	p.R3903W	PLEC_ENST00000398774.2_Missense_Mutation_p.R3734W|PLEC_ENST00000357649.2_Missense_Mutation_p.R3770W|PLEC_ENST00000354589.3_Missense_Mutation_p.R3766W|PLEC_ENST00000527096.1_Missense_Mutation_p.R3789W|PLEC_ENST00000356346.3_Missense_Mutation_p.R3752W|PLEC_ENST00000345136.3_Missense_Mutation_p.R3766W|PLEC_ENST00000436759.2_Missense_Mutation_p.R3793W|PLEC_ENST00000354958.2_Missense_Mutation_p.R3744W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3903	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGACCGCCCGCTCAGCCGAG	0.677000													7	18					0	0	0.003080	0	0
MGAT1	4245	broad.mit.edu	37	5	180218667	180218667	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:180218667C>A	ENST00000446023.2	-	3	2055	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	MGAT1_ENST00000307826.4_Silent_p.L435L|MGAT1_ENST00000333055.3_Silent_p.L435L|MGAT1_ENST00000427865.2_Silent_p.L435L|MGAT1_ENST00000393340.3_Silent_p.L435L	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	435			L -> P (in dbSNP:rs634501).		post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCCACGTCAGTGGGGGCG	0.622000													19	20					5.35356e-11	8.61053e-11	0.002780	1	0
KIAA0947	23379	broad.mit.edu	37	5	5457653	5457653	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:5457653G>T	ENST00000296564.7	+	12	1122	c.900G>T	c.(898-900)gaG>gaT	p.E300D		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	300										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTTAATGAGAATGGAAATC	0.358000													31	52					1.30897e-18	2.33541e-18	0.001786	1	0
RLF	6018	broad.mit.edu	37	1	40705148	40705148	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:40705148G>A	ENST00000372771.4	+	8	4801	c.4774G>A	c.(4774-4776)Gtt>Att	p.V1592I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1592					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGTTGTTTGCGTTAAGTACGG	0.428000													21	98					0	0	0.001882	0	0
FSHR	2492	broad.mit.edu	37	2	49189919	49189919	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:49189919C>T	ENST00000406846.2	-	10	2160	c.2041G>A	c.(2041-2043)Ggt>Agt	p.G681S	FSHR_ENST00000346173.3_Missense_Mutation_p.G619S|FSHR_ENST00000541117.1_Missense_Mutation_p.G417S|FSHR_ENST00000304421.4_Missense_Mutation_p.G655S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	681					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TAAGTGGAACCACTGGTGACT	0.413000									Gonadal Dysgenesis, 46 XX				6	109					0	0	0.003080	0	0
SLC12A7	10723	broad.mit.edu	37	5	1094289	1094289	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:1094289T>C	ENST00000264930.5	-	2	242	c.199A>G	c.(199-201)Aag>Gag	p.K67E		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	67					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCCATGTTCTTCCCTTCAAAG	0.468000													6	98					0	0	0.001168	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													5	78					0	0	0.000602	0	0
MOB3C	148932	broad.mit.edu	37	1	47078896	47078896	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:47078896T>G	ENST00000371940.1	-	1	3241	c.167A>C	c.(166-168)aAg>aCg	p.K56T	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.K33T|MOB3C_ENST00000271139.8_Missense_Mutation_p.K85T|MKNK1_ENST00000545730.1_Intron			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	33							metal ion binding										GGCCTGTGCCTTCTTGTACAG	0.637000													24	18					0	0	0.002780	0	0
TNK1	8711	broad.mit.edu	37	17	7290420	7290420	+	Silent	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7290420A>G	ENST00000570896.1	+	10	1790	c.1344A>G	c.(1342-1344)ccA>ccG	p.P448P	TNK1_ENST00000576812.1_Silent_p.P453P|TNK1_ENST00000311668.2_Silent_p.P448P			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	453					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCACCCGTCCAGTCCACAGAG	0.627000													8	21					0	0	0.004482	0	0
MMP26	56547	broad.mit.edu	37	11	5013232	5013232	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5013232C>A	ENST00000380390.1	+	6	850	c.634C>A	c.(634-636)Cat>Aat	p.H212N	MMP26_ENST00000300762.1_Missense_Mutation_p.H212N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	212					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGATTGGGCATTCTTTGGG	0.413000													5	33					0.000602214	0.000860495	0.000602	1	0
XIRP2	129446	broad.mit.edu	37	2	168107605	168107605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:168107605C>T	ENST00000409195.1	+	9	9792	c.9703C>T	c.(9703-9705)Cca>Tca	p.P3235S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3235S|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3013S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3060					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGGGACTCTCCACCTACAAT	0.438000													35	16					0	0	0.005524	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553886	140553886	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:140553886G>C	ENST00000231137.3	+	1	1644	c.1470G>C	c.(1468-1470)ctG>ctC	p.L490L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		490	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTACTCCCTGCTGCCGTCCC	0.662000													41	37					0	0	0.002222	0	0
USP34	9736	broad.mit.edu	37	2	61566804	61566804	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:61566804T>C	ENST00000398571.2	-	17	2589	c.2513A>G	c.(2512-2514)cAt>cGt	p.H838R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	838					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGATGTTTATGAACTACAGG	0.318000													15	34					0	0	0.004007	0	0
TAOK3	51347	broad.mit.edu	37	12	118590137	118590137	+	Silent	SNP	G	G	A	rs143511282	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:118590137G>A	ENST00000392533.3	-	20	2920	c.2430C>T	c.(2428-2430)aaC>aaT	p.N810N	TAOK3_ENST00000419821.2_Silent_p.N810N|TAOK3_ENST00000536979.1_Silent_p.N5N|TAOK3_ENST00000537952.1_Silent_p.N350N|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	810					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGGTAGGCGTTGAGCAGCT	0.532000													43	58					0	0	0.002852	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378058	55378058	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:55378058C>A	ENST00000326321.3	+	9	1273	c.1240C>A	c.(1240-1242)Cct>Act	p.P414T	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P397T|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P414T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	414					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AATCAGTCGCCCTTCTCAGAG	0.522000													114	97					9.4957e-49	1.87332e-48	0.003610	1	0
MYO16	23026	broad.mit.edu	37	13	109379876	109379876	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:109379876C>A	ENST00000356711.2	+	4	512	c.386C>A	c.(385-387)cCc>cAc	p.P129H	MYO16_ENST00000357550.2_Missense_Mutation_p.P129H|MYO16_ENST00000251041.5_Missense_Mutation_p.P129H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	129					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTGGACGCCCATGCACATT	0.423000													28	46					4.87955e-14	8.10776e-14	0.005443	1	0
LRP1B	53353	broad.mit.edu	37	2	141201897	141201897	+	Splice_Site	SNP	A	A	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:141201897A>C	ENST00000389484.3	-	65	11266		c.e65+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGGTGACTTACGACAGTCTC	0.328000										TSP Lung(27;0.18)			60	27					0	0	0.003610	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119211023	119211023	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:119211023C>T	ENST00000371402.2	-	2	499	c.310G>A	c.(310-312)Gtt>Att	p.V104I	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CTGTCCTCAACGTTGCCATCG	0.652000													11	36					0	0	0.001855	0	0
NBN	4683	broad.mit.edu	37	8	90960066	90960066	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:90960066C>G	ENST00000265433.3	-	12	2054	c.1900G>C	c.(1900-1902)Gct>Cct	p.A634P	NBN_ENST00000409330.1_Missense_Mutation_p.A552P	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	634					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATTTCTTTAGCTGACCATAGT	0.303000								Homologous recombination					2	6					0	0	0.004672	0	0
SACM1L	22908	broad.mit.edu	37	3	45776775	45776775	+	Silent	SNP	C	C	T	rs138504596		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:45776775C>T	ENST00000389061.5	+	14	1353	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	SACM1L_ENST00000418611.1_Silent_p.G280G|SACM1L_ENST00000541314.1_Silent_p.G322G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	383	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ACCAGGAAGGCGTGTTCCGAA	0.438000													15	42					0	0	0.002450	0	0
COL6A3	1293	broad.mit.edu	37	2	238242092	238242092	+	Splice_Site	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:238242092C>T	ENST00000295550.4	-	42	9781		c.e42+1		COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACAACTCACCTGTTTCAGT	0.448000													45	16					0	0	0.003610	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578009	14578009	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:14578009C>G	ENST00000544627.1	+	2	1504	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	ATF7IP_ENST00000540793.1_Missense_Mutation_p.S387C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S387C|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S387C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S387C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	387	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGCTATATCTAGCAGTATG	0.343000													15	91					0	0	0.004007	0	0
APBA2	321	broad.mit.edu	37	15	29406125	29406125	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:29406125G>T	ENST00000558402.1	+	15	2683	c.2084G>T	c.(2083-2085)cGt>cTt	p.R695L	APBA2_ENST00000411764.1_Missense_Mutation_p.R683L|APBA2_ENST00000561069.1_Missense_Mutation_p.R695L|APBA2_ENST00000558259.1_Missense_Mutation_p.R695L|APBA2_ENST00000558330.1_Missense_Mutation_p.R683L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	695	PDZ 2.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGGGCGTCCGTGTGGGCCAC	0.627000													19	31					2.54575e-18	4.50508e-18	0.001523	1	0
PRKCQ	5588	broad.mit.edu	37	10	6521108	6521108	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:6521108T>A	ENST00000263125.5	-	12	1298	c.1199A>T	c.(1198-1200)aAg>aTg	p.K400M	PRKCQ_ENST00000397176.2_Missense_Mutation_p.K400M|PRKCQ_ENST00000539722.1_Missense_Mutation_p.K275M	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	400	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATTGGTTTTCTTGAATTCTGC	0.388000													18	34					0	0	0.001523	0	0
ZNF624	57547	broad.mit.edu	37	17	16550702	16550702	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:16550702C>G	ENST00000311331.7	-	3	185	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGGTAACTTCAGGGCTCTGA	0.428000													37	50					0	0	0.004878	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441584	37441584	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:37441584T>C	ENST00000307750.4	-	2	1153	c.965A>G	c.(964-966)aAg>aGg	p.K322R		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CATGTGCTCCTTCTCACCAAG	0.512000													3	88					0	0	0.004672	0	0
TLE6	79816	broad.mit.edu	37	19	2993528	2993528	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:2993528C>T	ENST00000246112.4	+	15	1686	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	TLE6_ENST00000452088.1_Silent_p.H372H	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	372					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GCCAGCGGCACATGGTGGGGC	0.632000													11	32					0	0	0.000978	0	0
MYPN	84665	broad.mit.edu	37	10	69935118	69935118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:69935118C>T	ENST00000358913.5	+	12	3091	c.2603C>T	c.(2602-2604)cCt>cTt	p.P868L	MYPN_ENST00000354393.2_Missense_Mutation_p.P593L|MYPN_ENST00000540630.1_Missense_Mutation_p.P868L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	868						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACAAAGTCTCCTCAACCAGTG	0.433000													14	24					0	0	0.003163	0	0
HCN1	348980	broad.mit.edu	37	5	45262557	45262557	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45262557G>C	ENST00000303230.4	-	8	2196	c.2139C>G	c.(2137-2139)gcC>gcG	p.A713A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	713						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGTTCGAGCGGCCAGAGGGC	0.657000													7	17					0	0	0.003080	0	0
FAM193A	8603	broad.mit.edu	37	4	2661595	2661595	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:2661595C>T	ENST00000324666.5	+	8	1037	c.686C>T	c.(685-687)cCc>cTc	p.P229L	FAM193A_ENST00000502458.1_Missense_Mutation_p.P253L|FAM193A_ENST00000545951.1_Missense_Mutation_p.P229L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P229L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P229L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	229										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATCATGGACCCCCCCGTCACT	0.522000													31	35					0	0	0.008361	0	0
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs67185453		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7577535C>A	ENST00000420246.2	-	7	878	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000269305.4_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M|TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGATGGGCCTCCGGTTCAT	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	31					1.85244e-09	2.89389e-09	0.003330	1	0
AGO2	27161	broad.mit.edu	37	8	141561467	141561467	+	Silent	SNP	G	G	A	rs142051728		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:141561467G>A	ENST00000220592.5	-	11	1450	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	AGO2_ENST00000519980.1_Silent_p.I446I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CCTTGATCTCGATGCCCGTGT	0.592000													40	65					0	0	0.002522	0	0
OLFM4	10562	broad.mit.edu	37	13	53624258	53624258	+	Silent	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:53624258A>T	ENST00000219022.2	+	5	963	c.885A>T	c.(883-885)acA>acT	p.T295T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	295	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CATTGAATACAGATGGGAGAC	0.443000													40	65					0	0	0.006999	0	0
KLHL4	56062	broad.mit.edu	37	X	86877360	86877360	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:86877360G>T	ENST00000373119.4	+	5	1219	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q358H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	358						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATGATGTGCAGAATAGGCAAG	0.408000													42	14					7.05377e-20	1.28662e-19	0.003610	1	0
NR1H4	9971	broad.mit.edu	37	12	100904813	100904813	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:100904813C>A	ENST00000548884.1	+	4	878	c.337C>A	c.(337-339)Cgc>Agc	p.R113S	NR1H4_ENST00000549996.1_Missense_Mutation_p.R113S|NR1H4_ENST00000551379.1_Missense_Mutation_p.R123S|NR1H4_ENST00000392986.3_Missense_Mutation_p.R113S|NR1H4_ENST00000188403.7_Missense_Mutation_p.R123S	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	123					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AAAGAAGCCCCGCATGGGCGC	0.527000													22	51					3.62473e-10	5.759e-10	0.001882	1	0
CLCNKA	1187	broad.mit.edu	37	1	16357081	16357081	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:16357081G>T	ENST00000375692.1	+	16	1662	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A512S|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A469S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A512S			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	512					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CAACGCCATTGCACAGAGCTG	0.612000													27	19					4.59853e-10	7.25323e-10	0.005443	1	0
PTPRR	5801	broad.mit.edu	37	12	71286643	71286643	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:71286643G>T	ENST00000283228.2	-	2	625	c.173C>A	c.(172-174)cCa>cAa	p.P58Q		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	58					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GATTTTTTGTGGGGCTATATC	0.408000													60	126					7.47603e-22	1.37517e-21	0.003610	1	0
C11orf52	91894	broad.mit.edu	37	11	111796859	111796859	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:111796859A>G	ENST00000278601.5	+	4	404	c.308A>G	c.(307-309)tAt>tGt	p.Y103C	C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	103										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		GCTACAGAGTATGCGACCCTT	0.547000													26	14					0	0	0.003330	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88870420	88870420	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:88870420C>A	ENST00000303236.3	-	14	3258	c.2957G>T	c.(2956-2958)gGg>gTg	p.G986V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G835V|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	986	Protein kinase.				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						CAGTTTGGTCCCTACTTGTCC	0.473000													68	84					2.05175e-36	3.98748e-36	0.003610	1	0
LCOR	84458	broad.mit.edu	37	10	98714903	98714903	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:98714903G>A	ENST00000540664.1	+	8	1069	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	LCOR_ENST00000356016.3_Missense_Mutation_p.G176R|LCOR_ENST00000371103.3_Missense_Mutation_p.G176R|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371097.4_Missense_Mutation_p.G176R	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TGCCAGCCTTGGGCCATCTGG	0.463000													24	33					0	0	0.003954	0	0
SNAP91	9892	broad.mit.edu	37	6	84302213	84302213	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:84302213C>G	ENST00000428679.2	-	21	2484	c.1891G>C	c.(1891-1893)Gca>Cca	p.A631P	SNAP91_ENST00000369694.2_Missense_Mutation_p.A631P|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.A631P|SNAP91_ENST00000195649.6_Missense_Mutation_p.A631P|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.A631P|SNAP91_ENST00000521485.1_Missense_Mutation_p.A631P			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	631					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCCACCTTTGCTGGCGAGGCA	0.438000													6	14					0	0	0.004482	0	0
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468000													46	49					0	0	0.003610	0	0
LONP2	83752	broad.mit.edu	37	16	48295405	48295405	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:48295405A>T	ENST00000285737.4	+	5	887	c.794A>T	c.(793-795)gAa>gTa	p.E265V	LONP2_ENST00000535754.1_Missense_Mutation_p.E221V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	265					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GATGAAGATGAAGATAATGAT	0.353000													34	91					0	0	0.003271	0	0
WDFY3	23001	broad.mit.edu	37	4	85661382	85661382	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:85661382A>T	ENST00000322366.6	-	39	6829	c.6422T>A	c.(6421-6423)aTt>aAt	p.I2141N	WDFY3_ENST00000295888.4_Missense_Mutation_p.I2141N			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2141						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGACAGCTAATGAATTCTTG	0.423000													31	67					0	0	0.002836	0	0
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:114284743G>C	ENST00000393500.3	+	14	1588	c.768G>C	c.(766-768)tcG>tcC	p.S256S	FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000393494.2_Silent_p.S331S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000403559.4_Silent_p.S348S|FOXP2_ENST00000350908.4_Silent_p.S331S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468000													5	37					0	0	0.000602	0	0
MYO1F	4542	broad.mit.edu	37	19	8616943	8616943	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8616943C>G	ENST00000338257.8	-	7	877	c.610G>C	c.(610-612)Gag>Cag	p.E204Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	204	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGTTCCTCTCATTTTCATTT	0.572000													26	48					0	0	0.003330	0	0
KCNS2	3788	broad.mit.edu	37	8	99440930	99440930	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:99440930G>T	ENST00000287042.4	+	2	1073	c.723G>T	c.(721-723)gaG>gaT	p.E241D	KCNS2_ENST00000521839.1_Missense_Mutation_p.E241D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	241						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCACATTTGAGCTGGTGGCCA	0.532000													49	66					2.64894e-19	4.79158e-19	0.003610	1	0
ROS1	6098	broad.mit.edu	37	6	117678071	117678071	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:117678071A>C	ENST00000368508.3	-	25	4060	c.3862T>G	c.(3862-3864)Tat>Gat	p.Y1288D	ROS1_ENST00000368507.3_Missense_Mutation_p.Y1283D|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1288					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTGTCCAATACAAGCGACTA	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								3	45					0	0	0.004672	0	0
PPEF1	5475	broad.mit.edu	37	X	18836239	18836239	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:18836239C>A	ENST00000361511.4	+	16	1971	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K	PPEF1_ENST00000544635.1_Missense_Mutation_p.Q428K|PPEF1_ENST00000349874.5_Missense_Mutation_p.Q431K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.Q440K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	493	EF-hand 1.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCGTGCTTTCCAACTTCAAGA	0.353000													31	15					5.60225e-13	9.28495e-13	0.001786	1	0
SLC29A1	2030	broad.mit.edu	37	6	44197181	44197181	+	Silent	SNP	G	G	A	rs8187630	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:44197181G>A	ENST00000393841.1	+	4	575	c.84G>A	c.(82-84)ccG>ccA	p.P28P	SLC29A1_ENST00000313248.7_Silent_p.P107P|SLC29A1_ENST00000371731.1_Silent_p.P28P|SLC29A1_ENST00000371740.5_Silent_p.P28P|SLC29A1_ENST00000393844.1_Silent_p.P28P|SLC29A1_ENST00000427851.2_Silent_p.P28P|SLC29A1_ENST00000371708.1_Silent_p.P28P|SLC29A1_ENST00000371724.1_Silent_p.P28P|SLC29A1_ENST00000371713.1_Silent_p.P28P|SLC29A1_ENST00000371755.3_Silent_p.P28P	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	28					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CGCTGCTCCCGTGGAATTTTT	0.562000													25	100					0	0	0.006320	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115526201	115526201	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:115526201A>C	ENST00000361048.1	+	3	387	c.60A>C	c.(58-60)gaA>gaC	p.E20D	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E14D|PLEKHS1_ENST00000369312.4_5'UTR	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		ATGAAAATGAAGTCTGCAAAC	0.353000													8	57					0	0	0.004482	0	0
GYS1	2997	broad.mit.edu	37	19	49477910	49477910	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:49477910G>T	ENST00000323798.3	-	11	1585	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	GYS1_ENST00000541188.1_Silent_p.I383I|GYS1_ENST00000544287.1_Silent_p.I96I|GYS1_ENST00000263276.6_Silent_p.I399I	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	463					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGAAGAGGCCGATTCGGCGGA	0.612000													12	7					7.03913e-09	1.08665e-08	0.001368	1	0
ANKS1B	56899	broad.mit.edu	37	12	99223121	99223121	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:99223121C>A	ENST00000547776.2	-	19	2896	c.2897G>T	c.(2896-2898)gGt>gTt	p.G966V	ANKS1B_ENST00000549493.2_Missense_Mutation_p.G192V|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G192V|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G966V|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547446.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	966						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGTGTGATTACCACTGGGTTC	0.438000													22	39					7.41877e-09	1.13987e-08	0.001882	1	0
ROBO2	6092	broad.mit.edu	37	3	77089985	77089985	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:77089985G>T	ENST00000461745.1	+	1	949	c.49G>T	c.(49-51)Gtt>Ttt	p.V17F	ROBO2_ENST00000487694.3_Intron|ROBO2_ENST00000332191.8_Missense_Mutation_p.V17F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	17					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)		ATTTTTATATGTTCGGGTTGA	0.383000													37	32					1.15505e-17	2.02211e-17	0.002222	1	0
SLC18A3	6572	broad.mit.edu	37	10	50819675	50819675	+	Missense_Mutation	SNP	G	G	A	rs149097990		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:50819675G>A	ENST00000374115.3	+	1	1329	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	297					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GGTGGCCGGCGCGCTCACCAC	0.642000													25	44					0	0	0.004656	0	0
CRTC3	64784	broad.mit.edu	37	15	91162992	91162992	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:91162992G>A	ENST00000420329.2	+	9	866	c.719G>A	c.(718-720)cGc>cAc	p.R240H	CRTC3_ENST00000268184.6_Missense_Mutation_p.R240H	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	240					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGTCAGGACGCCCTCGATCC	0.443000			T	MAML2	salivary gland mucoepidermoid								13	123					0	0	0.004990	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583729	145583729	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:145583729G>A	ENST00000532887.1	+	3	1160	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	SLC52A2_ENST00000527078.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A105T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A193T|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A193T			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	193						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCGTTTTCCCGCCAGCACCTT	0.662000													33	64					0	0	0.002096	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036073	50036073	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:50036073G>A	ENST00000261897.1	+	19	2386	c.1835G>A	c.(1834-1836)aGg>aAg	p.R612K	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R647K|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R625K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	625					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGGCACGCAGGATGCGGCGC	0.637000													16	64					0	0	0.004007	0	0
GABRP	2568	broad.mit.edu	37	5	170238960	170238960	+	Splice_Site	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:170238960G>A	ENST00000518525.1	+	11	1485	c.1020_splice	c.e11-1	p.G341_splice	GABRP_ENST00000265294.4_Splice_Site_p.G341_splice|GABRP_ENST00000519385.1_Splice_Site_p.G278_splice			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	341						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATGAACTAGGGGACAACAAA	0.358000													27	19					0	0	0.007291	0	0
LRP1B	53353	broad.mit.edu	37	2	141232793	141232793	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:141232793G>T	ENST00000389484.3	-	60	10510	c.9539C>A	c.(9538-9540)aCa>aAa	p.T3180K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3180					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAATCTATTGTTAGTGCCAT	0.408000										TSP Lung(27;0.18)			72	29					1.59245e-42	3.12273e-42	0.003610	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262084	39262084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:39262084C>G	ENST00000391415.1	+	1	501	c.444C>G	c.(442-444)aaC>aaG	p.N148K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gccagcccaactgctgccgcc	0.672000													9	13					0	0	0.008291	0	0
ARMC6	93436	broad.mit.edu	37	19	19166617	19166617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:19166617C>A	ENST00000535612.1	+	8	1605	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	ARMC6_ENST00000392336.3_Nonsense_Mutation_p.C391*|ARMC6_ENST00000546344.1_Nonsense_Mutation_p.C298*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.C366*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.C366*	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	391							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGCAGAGCTGCGCGGCCCTGT	0.642000													59	122					3.79397e-19	6.84382e-19	0.003610	1	0
LETM2	137994	broad.mit.edu	37	8	38250136	38250136	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:38250136C>T	ENST00000519476.2	+	3	424	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	LETM2_ENST00000524874.1_Missense_Mutation_p.H42Y|LETM2_ENST00000297720.5_5'UTR|LETM2_ENST00000379957.4_Missense_Mutation_p.H42Y|LETM2_ENST00000523983.2_5'UTR			Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	42						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GCCAGATTCCCATTTAAATAA	0.413000													46	270					0	0	0.003610	0	0
SLC9A8	23315	broad.mit.edu	37	20	48494548	48494548	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:48494548C>T	ENST00000417961.1	+	12	1364	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	SLC9A8_ENST00000539601.1_Missense_Mutation_p.S150F|SLC9A8_ENST00000541138.1_Missense_Mutation_p.S69F|SLC9A8_ENST00000361573.2_Missense_Mutation_p.S369F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	369						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTTGGCCTGTCCATTTTTAGT	0.294000													23	63					0	0	0.004656	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166889289	166889289	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:166889289T>C	ENST00000366863.2	-	11	1163	c.484A>G	c.(484-486)Agg>Ggg	p.R162G	RPS6KA2_ENST00000481261.2_Intron|RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000265678.4_Intron|RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000510118.1_Intron			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCTAGGAGCCTGGAGCAACTC	0.488000													27	58					0	0	0.002445	0	0
ZP3	7784	broad.mit.edu	37	7	76058904	76058904	+	Missense_Mutation	SNP	G	G	A	rs144669807	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:76058904G>A	ENST00000336517.4	+	3	578	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000394857.3_Missense_Mutation_p.V129M	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	129	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CCTGTCCATCGTGAGGACTAA	0.597000													14	58					0	0	0.002450	0	0
ITGAM	3684	broad.mit.edu	37	16	31308840	31308840	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:31308840C>T	ENST00000544665.3	+	13	1433	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_ENST00000287497.8_Silent_p.G454G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582000													27	168					0	0	0.002096	0	0
TM9SF4	9777	broad.mit.edu	37	20	30749133	30749133	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:30749133G>C	ENST00000217315.5	+	17	2033	c.1693G>C	c.(1693-1695)Gtc>Ctc	p.V565L	TM9SF4_ENST00000398022.2_Missense_Mutation_p.V582L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	582						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCATTCTACGTCCTGGTTTA	0.517000													28	45					0	0	0.002836	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036041	48036041	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:48036041G>A	ENST00000543600.1	-	1	339	c.300C>T	c.(298-300)ctC>ctT	p.L100L	PTCHD4_ENST00000339488.4_Silent_p.L117L			Q6ZW05	CF138_HUMAN	patched domain containing 4	117						integral to membrane	hedgehog receptor activity										CGGTTGGGGAGAGGAGGATCA	0.567000													35	95					0	0	0.002445	0	0
GPR171	29909	broad.mit.edu	37	3	150916254	150916254	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:150916254T>C	ENST00000309180.5	-	3	1150	c.920A>G	c.(919-921)aAg>aGg	p.K307R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	307						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTGAGCCTTGGTCTCTTT	0.398000													4	119					0	0	0.001168	0	0
PURG	29942	broad.mit.edu	37	8	30889770	30889770	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30889770C>G	ENST00000475541.1	-	1	1461	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	PURG_ENST00000339382.2_Missense_Mutation_p.E177Q	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	177						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTGTCCCTCTCGATATAGTCT	0.532000													14	58					0	0	0.001855	0	0
CSHL1	1444	broad.mit.edu	37	17	61987419	61987419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:61987419G>A	ENST00000450719.3	-	3	529	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000561003.1_Nonsense_Mutation_p.Q109*			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGTTCTCTTGGGTCAGCGCC	0.557000													23	53					0	0	0.002299	0	0
SMARCA2	6595	broad.mit.edu	37	9	2123782	2123782	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:2123782G>A	ENST00000382203.1	+	27	4035	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1276K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1276K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1276K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1276					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCGTTTAATGGAGGAGGATGA	0.547000													7	36					0	0	0.006214	0	0
CCNB3	85417	broad.mit.edu	37	X	50052941	50052941	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:50052941A>T	ENST00000376042.1	+	6	2070	c.1772A>T	c.(1771-1773)aAg>aTg	p.K591M	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.K591M			Q8WWL7	CCNB3_HUMAN	cyclin B3	591					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.K591T(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTACAGGAAAAGAAAATTACT	0.408000													13	9					0	0	0.001855	0	0
SFT2D2	375035	broad.mit.edu	37	1	168200757	168200757	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:168200757T>C	ENST00000271375.3	+	2	141	c.69T>C	c.(67-69)gtT>gtC	p.V23V	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.V23V|SFT2D2_ENST00000367825.3_Silent_p.V23V	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	23					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					TTTAGGTTGTTGAGGCATCTT	0.348000													48	52					0	0	0.003610	0	0
OR2A2	442361	broad.mit.edu	37	7	143807030	143807030	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:143807030T>A	ENST00000408979.2	+	1	424	c.355T>A	c.(355-357)Tat>Aat	p.Y119N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGTGATGTCCTATGATAGGTA	0.463000													96	41					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24923722	24923722	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:24923722C>A	ENST00000329468.2	+	1	3182	c.2708C>A	c.(2707-2709)gCc>gAc	p.A903D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACACTTGGGGCCACTGATGGG	0.498000													75	92					1.15773e-35	2.23008e-35	0.003610	1	0
PCDH10	57575	broad.mit.edu	37	4	134072572	134072572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:134072572G>A	ENST00000264360.4	+	1	2103	c.1277G>A	c.(1276-1278)gGg>gAg	p.G426E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	426	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGAGAGGCGGGGGACTCCTAC	0.587000													95	47					0	0	0.003610	0	0
TGM4	7047	broad.mit.edu	37	3	44951648	44951648	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:44951648G>A	ENST00000296125.4	+	11	1462	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	465					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGGGAGCACAGACGACCTGTA	0.478000													22	30					0	0	0.001523	0	0
PASK	23178	broad.mit.edu	37	2	242079332	242079332	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:242079332C>T	ENST00000403638.3	-	4	659	c.568G>A	c.(568-570)Gac>Aac	p.D190N	PASK_ENST00000405260.1_Missense_Mutation_p.D190N|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.D190N|PASK_ENST00000358649.4_Missense_Mutation_p.D190N	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	190	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCGTGGCCGTCGGCCTCCATG	0.607000													5	44					0	0	0.000602	0	0
SELP	6403	broad.mit.edu	37	1	169586541	169586541	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:169586541G>T	ENST00000263686.6	-	3	243	c.206C>A	c.(205-207)gCc>gAc	p.A69D	SELP_ENST00000367792.2_Missense_Mutation_p.A69D|SELP_ENST00000367791.2_Missense_Mutation_p.A69D|SELP_ENST00000367793.2_Missense_Mutation_p.A69D|SELP_ENST00000458599.2_Missense_Mutation_p.A69D|SELP_ENST00000367786.2_Missense_Mutation_p.A69D|SELP_ENST00000367788.2_Missense_Mutation_p.A69D|SELP_ENST00000367794.2_Missense_Mutation_p.A69D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	69	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTCTGGATGGCCACTAAGTC	0.408000													55	142					6.3091e-27	1.18047e-26	0.003610	1	0
SLC22A25	387601	broad.mit.edu	37	11	62948160	62948160	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:62948160T>C	ENST00000403374.2	-	7	847	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.K348E			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	348					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGATTCTTTTACATATGTTG	0.373000													29	16					0	0	0.001786	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906545	164906545	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:164906545G>T	ENST00000475390.1	-	2	2517	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R	SLITRK3_ENST00000241274.3_Silent_p.R692R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	692						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTCCTGCCGCTTGCTTCTG	0.572000										HNSCC(40;0.11)			27	47					6.12954e-19	1.0966e-18	0.004656	1	0
COL22A1	169044	broad.mit.edu	37	8	139691866	139691866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:139691866A>T	ENST00000303045.6	-	40	3512	c.3066T>A	c.(3064-3066)tgT>tgA	p.C1022*	COL22A1_ENST00000341807.4_Intron|COL22A1_ENST00000435777.1_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1022	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGACCTTAACACATTGCCCTC	0.408000										HNSCC(7;0.00092)			24	51					0	0	0.008361	0	0
DOCK2	1794	broad.mit.edu	37	5	169509800	169509800	+	Splice_Site	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:169509800C>T	ENST00000256935.8	+	52	5511	c.5430_splice	c.e52-1	p.L1811_splice	DOCK2_ENST00000540750.1_Splice_Site_p.L872_splice|DOCK2_ENST00000520908.1_Splice_Site_p.L1303_splice|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1811					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCAAAAGCTGGCCAGCAA	0.512000													19	16					0	0	0.007413	0	0
SPAG16	79582	broad.mit.edu	37	2	215275038	215275038	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:215275038G>C	ENST00000331683.5	+	16	1990	c.1895G>C	c.(1894-1896)tGa>tCa	p.*632S	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Nonstop_Mutation_p.*538S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACGTGGTCTTGACCGTCAGCA	0.527000													16	68					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	A	rs11575996		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7576853C>A	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTTAGTACCTGAAGGGTGA	0.453000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	42					3.62473e-10	5.759e-10	0.001882	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457835	45457835	+	RNA	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:45457835C>A	ENST00000548424.1	+	0	448																											TTTGTTTAGGCGAAAGGTCAG	0.453000													38	68					4.32679e-17	7.51435e-17	0.006999	1	0
NUP85	79902	broad.mit.edu	37	17	73214330	73214330	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:73214330G>A	ENST00000245544.4	+	7	597	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.E176K|NUP85_ENST00000447371.2_Intron|NUP85_ENST00000579324.1_Missense_Mutation_p.E64K|NUP85_ENST00000541827.1_Missense_Mutation_p.E130K	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	176					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCATGTGTGCGAGGTGGACAG	0.572000													7	64					0	0	0.001984	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767762	12767762	+	Splice_Site	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:12767762C>G	ENST00000456935.2	-	12	1568		c.e12+1		MAN2B1_ENST00000221363.4_Splice_Site|MAN2B1_ENST00000495617.1_Splice_Site	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1						protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCGGCTCACGCGCGCCGCC	0.572000													8	12					0	0	0.003080	0	0
CHCHD6	84303	broad.mit.edu	37	3	126633572	126633572	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:126633572C>G	ENST00000508789.1	+	6	620	c.548C>G	c.(547-549)tCa>tGa	p.S183*	CHCHD6_ENST00000290913.3_Nonsense_Mutation_p.S182*|CHCHD6_ENST00000515867.1_3'UTR			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	182										endometrium(2)|large_intestine(3)|lung(3)	8						GAGGCAGCCTCAAAGATGGAG	0.388000													33	12					0	0	0.004289	0	0
MCM10	55388	broad.mit.edu	37	10	13222601	13222601	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:13222601G>T	ENST00000378694.1	+	6	999	c.924G>T	c.(922-924)gtG>gtT	p.V308V	MCM10_ENST00000484800.2_Silent_p.V309V|MCM10_ENST00000378714.3_Silent_p.V308V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	309					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CACAGAGTGTGAATAGTGTAA	0.408000													35	77					8.73648e-17	1.5013e-16	0.004289	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18158887	18158887	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:18158887G>A	ENST00000396275.2	+	3	499	c.138G>A	c.(136-138)gcG>gcA	p.A46A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	46						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGGAAACGCGGTTGTGCTCT	0.602000													6	131					0	0	0.001984	0	0
RXRG	6258	broad.mit.edu	37	1	165398110	165398110	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:165398110G>T	ENST00000359842.5	-	2	445	c.143C>A	c.(142-144)aCc>aAc	p.T48N		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	48	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTCACTGGGGTATCTGTGTA	0.612000													8	51					1.12685e-05	1.66102e-05	0.004482	1	0
MIR543	100126335	broad.mit.edu	37	14	101498379	101498379	+	RNA	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:101498379C>T	ENST00000390751.1	+	0	56					NR_030619.1																						GAAACATTCGCGGTGCACTTC	0.498000													21	17					0	0	0.001882	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84547750	84547750	+	RNA	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:84547750C>T	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							GATGTCCTTCCTTAGTTCCAA	0.438000													7	17					0	0	0.003080	0	0
ZNF274	10782	broad.mit.edu	37	19	58718244	58718244	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:58718244G>A	ENST00000326804.4	+	5	873	c.414G>A	c.(412-414)ctG>ctA	p.L138L	ZNF274_ENST00000345813.3_Silent_p.L106L|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Silent_p.L33L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	138					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATGGAAGCCTGAGTGCAGATG	0.577000													4	15					0	0	0.000248	0	0
NRXN1	9378	broad.mit.edu	37	2	50573944	50573944	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:50573944C>A	ENST00000342183.5	-	1	948	c.144G>T	c.(142-144)gcG>gcT	p.A48A	NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000402717.3_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGCCCCCCACGCCACTCCTA	0.682000													19	13					5.35356e-11	8.61053e-11	0.002780	1	0
CACNA1E	777	broad.mit.edu	37	1	181702849	181702849	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:181702849C>T	ENST00000526775.1	+	20	3333	c.3168C>T	c.(3166-3168)ccC>ccT	p.P1056P	CACNA1E_ENST00000367570.1_Silent_p.P1075P|CACNA1E_ENST00000360108.3_Silent_p.P1056P|CACNA1E_ENST00000367567.4_Silent_p.P682P|CACNA1E_ENST00000367573.2_Silent_p.P1075P|CACNA1E_ENST00000357570.5_Silent_p.P1026P|CACNA1E_ENST00000358338.5_Silent_p.P1007P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1075					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						TCGCCATCCCCGACGTGGACC	0.652000													12	28					0	0	0.000978	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	19					0	0	0.004672	0	0
FCRL4	83417	broad.mit.edu	37	1	157551393	157551393	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157551393T>A	ENST00000271532.1	-	7	1312	c.1177A>T	c.(1177-1179)Act>Tct	p.T393S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	393						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCCCTCCAGTGGCTCCCGCG	0.572000													33	18					0	0	0.002445	0	0
ZNF426	79088	broad.mit.edu	37	19	9639320	9639320	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9639320C>A	ENST00000593003.1	-	6	1764	c.1287G>T	c.(1285-1287)atG>atT	p.M429I	ZNF426_ENST00000535489.1_Missense_Mutation_p.M467I|ZNF426_ENST00000253115.2_Missense_Mutation_p.M467I			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGATTCGCATGTGAATTT	0.423000													19	56					0.00121646	0.0017231	0.008871	1	0
HINFP	25988	broad.mit.edu	37	11	119003446	119003446	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:119003446G>T	ENST00000350777.2	+	7	893	c.830G>T	c.(829-831)cGt>cTt	p.R277L	HINFP_ENST00000527410.1_Missense_Mutation_p.R277L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	277					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGCGCTTTCGTCACAGTGAG	0.542000													40	29					1.30091e-30	2.46946e-30	0.006999	1	0
TRDMT1	1787	broad.mit.edu	37	10	17199734	17199734	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:17199734G>T	ENST00000377799.3	-	8	640	c.593C>A	c.(592-594)gCa>gAa	p.A198E	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Missense_Mutation_p.A75E|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.A152E|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.A174E|TRDMT1_ENST00000457442.2_Missense_Mutation_p.A117E	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	198					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						TACATCCATTGCATATTTTTG	0.318000													14	18					4.3838e-07	6.53567e-07	0.001855	1	0
MUC4	4585	broad.mit.edu	37	3	195489041	195489041	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:195489041A>T	ENST00000463781.3	-	14	14888	c.14429T>A	c.(14428-14430)gTc>gAc	p.V4810D	MUC4_ENST00000349607.4_Missense_Mutation_p.V523D|MUC4_ENST00000475231.1_Missense_Mutation_p.V4758D|MUC4_ENST00000346145.4_Missense_Mutation_p.V574D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1567					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATCACCGAGACGGTGGCCCA	0.697000													9	16					0	0	0.004482	0	0
CD5L	922	broad.mit.edu	37	1	157803236	157803236	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157803236T>C	ENST00000368174.4	-	5	881	c.785A>G	c.(784-786)aAg>aGg	p.K262R		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	262	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATACGCCCTTGTGCAGCAC	0.572000													89	91					0	0	0.003610	0	0
TTC17	55761	broad.mit.edu	37	11	43428727	43428727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:43428727G>T	ENST00000039989.4	+	14	1815	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*	TTC17_ENST00000299240.6_Nonsense_Mutation_p.E601*|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	601							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TATCCCAGAAGAAGAAATTGG	0.284000													31	37					1.36615e-20	2.50588e-20	0.002836	1	0
SPTA1	6708	broad.mit.edu	37	1	158656328	158656328	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158656328C>A	ENST00000368148.3	-	0	160				SPTA1_ENST00000368147.3_De_novo_Start_OutOfFrame	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTTTAGAACCTGGCAAGATA	0.328000													41	50					2.26627e-22	4.19229e-22	0.007835	1	0
HMGCS2	3158	broad.mit.edu	37	1	120311418	120311418	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:120311418G>A	ENST00000369406.3	-	1	99	c.50C>T	c.(49-51)gCg>gTg	p.A17V	HMGCS2_ENST00000544913.2_Missense_Mutation_p.A17V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	17					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTCCTGCACCGCTCTTGTCAG	0.517000													8	25					0	0	0.003080	0	0
GCNT2	2651	broad.mit.edu	37	6	10529180	10529180	+	Silent	SNP	G	G	A	rs142352495	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:10529180G>A	ENST00000379597.3	+	1	592	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_ENST00000495262.1_Silent_p.A12A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	12						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388000													19	81					0	0	0.001523	0	0
AFF2	2334	broad.mit.edu	37	X	147743456	147743456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:147743456C>T	ENST00000370460.2	+	3	687	c.208C>T	c.(208-210)Cga>Tga	p.R70*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.R66*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.R66*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.R66*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	70					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGCCAACCGAGTCCAGAA	0.388000													67	30					0	0	0.003610	0	0
SCN8A	6334	broad.mit.edu	37	12	52078000	52078000	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:52078000A>G	ENST00000354534.5	+	3	497	c.319A>G	c.(319-321)Agt>Ggt	p.S107G	SCN8A_ENST00000550891.1_Missense_Mutation_p.S107G|SCN8A_ENST00000545061.1_Missense_Mutation_p.S107G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	107					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CTTCAGATTTAGTGCCACGCC	0.358000													25	44					0	0	0.005443	0	0
SEPT14	346288	broad.mit.edu	37	7	55914269	55914269	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:55914269G>T	ENST00000388975.3	-	3	232	c.116C>A	c.(115-117)cCc>cAc	p.P39H	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	39					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAACTGATTGGGCAAACATTC	0.303000													50	102					1.35964e-18	2.41919e-18	0.003610	1	0
SNRNP200	23020	broad.mit.edu	37	2	96944433	96944433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:96944433G>C	ENST00000323853.5	-	38	5417	c.5340C>G	c.(5338-5340)caC>caG	p.H1780Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1780						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						GGTCCGACAAGTGACGATGGG	0.577000													27	51					0	0	0.005443	0	0
POT1	25913	broad.mit.edu	37	7	124475372	124475372	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:124475372G>A	ENST00000357628.3	-	15	2064	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	POT1_ENST00000393329.1_Missense_Mutation_p.S358L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	489					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAATGGTGCTGAAAGGTCCAA	0.358000													13	71					0	0	0.001855	0	0
SYCP1	6847	broad.mit.edu	37	1	115537355	115537355	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:115537355T>A	ENST00000369522.3	+	31	2980	c.2740T>A	c.(2740-2742)Tat>Aat	p.Y914N	SYCP1_ENST00000369518.1_Missense_Mutation_p.Y914N|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	914					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAACACTGTATAGGAACAA	0.284000													22	7					0	0	0.003954	0	0
MME	4311	broad.mit.edu	37	3	154886357	154886357	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:154886357C>A	ENST00000460393.1	+	19	1977	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	MME_ENST00000360490.2_Silent_p.S619S|MME_ENST00000462745.1_Silent_p.S619S|MME_ENST00000492661.1_Silent_p.S619S|MME_ENST00000493237.1_Silent_p.S619S|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	619					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGGAGCAATCCCAGTGCATGG	0.393000													36	74					2.86225e-05	4.18132e-05	0.005524	1	0
DNM2	1785	broad.mit.edu	37	19	10893759	10893759	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:10893759G>T	ENST00000314646.5	+	6	976	c.812G>T	c.(811-813)cGc>cTc	p.R271L	DNM2_ENST00000389253.4_Missense_Mutation_p.R271L|DNM2_ENST00000355667.6_Missense_Mutation_p.R271L|DNM2_ENST00000585892.1_Missense_Mutation_p.R271L|DNM2_ENST00000408974.4_Missense_Mutation_p.R271L|DNM2_ENST00000359692.6_Missense_Mutation_p.R271L			P50570	DYN2_HUMAN	dynamin 2	271					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATGGCCGACCGCATGGGCACG	0.577000			"""F, N, Splice, Mis, O"""		ETP ALL								19	40					1.45105e-14	2.42337e-14	0.006122	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41442336	41442336	+	RNA	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:41442336G>A	ENST00000599198.1	+	0	428					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AAGGTGCTTCGGCGATTCTCT	0.557000													6	5					0	0	0.001168	0	0
IGFBP1	3484	broad.mit.edu	37	7	45928415	45928415	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:45928415C>A	ENST00000275525.3	+	1	460	c.164C>A	c.(163-165)gCc>gAc	p.A55D	IGFBP1_ENST00000468955.1_Missense_Mutation_p.A55D|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A55D	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	55	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						ACCCGGTCCGCCGGCTGCGGC	0.771000													7	12					1.06961e-07	1.60935e-07	0.003080	1	0
MCM2	4171	broad.mit.edu	37	3	127338055	127338055	+	Silent	SNP	G	G	A	rs144817363		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:127338055G>A	ENST00000265056.7	+	13	2443	c.2199G>A	c.(2197-2199)ccG>ccA	p.P733P	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	733					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGGTCCACCCGAAGCTCAACC	0.597000													14	48					0	0	0.002450	0	0
TPX2	22974	broad.mit.edu	37	20	30366776	30366776	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:30366776A>G	ENST00000340513.4	+	10	1571	c.1043A>G	c.(1042-1044)aAg>aGg	p.K348R	TPX2_ENST00000300403.6_Missense_Mutation_p.K348R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	348					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGGAGCAAGAAGGATGATATT	0.403000													5	31					0	0	0.000602	0	0
NCOR1	9611	broad.mit.edu	37	17	15942772	15942772	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:15942772C>G	ENST00000268712.3	-	44	7187	c.6930G>C	c.(6928-6930)gaG>gaC	p.E2310D	NCOR1_ENST00000395857.3_Missense_Mutation_p.E894D|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2207D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2310	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTCCCCTTCCTCTCTTCGTG	0.468000													10	35					0	0	0.008291	0	0
RGR	5995	broad.mit.edu	37	10	86017674	86017674	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:86017674C>A	ENST00000359452.4	+	6	706	c.668C>A	c.(667-669)aCg>aAg	p.T223K	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	219					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGCAAGGACGCTGCTGCTC	0.552000													11	35					1.08611e-07	1.63041e-07	0.000978	1	0
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:31089993C>G	ENST00000359202.3	-	1	177	c.78G>C	c.(76-78)acG>acC	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627000													23	18					0	0	0.002299	0	0
PRPF40B	25766	broad.mit.edu	37	12	50035774	50035774	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:50035774G>A	ENST00000261897.1	+	18	2297	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.L617L|PRPF40B_ENST00000380281.1_Silent_p.L595L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	595					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTGCCGCACTGGACGCAGGCA	0.567000													22	90					0	0	0.002299	0	0
COMT	1312	broad.mit.edu	37	22	19951848	19951848	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:19951848G>A	ENST00000403184.1	+	5	897	c.641G>A	c.(640-642)cGt>cAt	p.R214H	COMT_ENST00000406520.3_Intron|COMT_ENST00000407537.1_Intron|COMT_ENST00000449653.1_Intron|COMT_ENST00000403710.1_Intron|COMT_ENST00000361682.6_Intron			P21964	COMT_HUMAN	catechol-O-methyltransferase	0					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	GATGGCATCCGTGCCAGCTGC	0.607000													4	19					0	0	0.001168	0	0
ADCY2	108	broad.mit.edu	37	5	7826964	7826964	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:7826964C>A	ENST00000338316.4	+	25	3345	c.3256C>A	c.(3256-3258)Cag>Aag	p.Q1086K	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q906K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1086					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTCCCTTTCCCAGAGCAACGT	0.468000													44	72					4.01344e-20	7.34111e-20	0.003610	1	0
IRX2	153572	broad.mit.edu	37	5	2749623	2749623	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:2749623G>C	ENST00000382611.6	-	2	776	c.528C>G	c.(526-528)aaC>aaG	p.N176K	IRX2_ENST00000302057.5_Missense_Mutation_p.N176K|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGGTCATCTTGTTCTCCTTCT	0.602000													45	78					0	0	0.003610	0	0
TRPV4	59341	broad.mit.edu	37	12	110236583	110236583	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:110236583C>T	ENST00000418703.2	-	5	1082	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	TRPV4_ENST00000544971.1_Missense_Mutation_p.A283T|TRPV4_ENST00000541794.1_Missense_Mutation_p.A283T|TRPV4_ENST00000537083.1_Missense_Mutation_p.A330T|TRPV4_ENST00000536838.1_Missense_Mutation_p.A296T|TRPV4_ENST00000392719.2_Missense_Mutation_p.A283T|TRPV4_ENST00000346520.2_Missense_Mutation_p.A330T|TRPV4_ENST00000261740.2_Missense_Mutation_p.A330T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	330					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCAGCAATGGCCACCAGCGCA	0.592000													13	29					0	0	0.003163	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290919	141290919	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:141290919C>G	ENST00000247452.3	-	3	1202	c.855G>C	c.(853-855)gaG>gaC	p.E285D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	285	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCGATACTCCAGGTAAT	0.502000										HNSCC(46;0.14)			63	16					0	0	0.003610	0	0
HTR5A	3361	broad.mit.edu	37	7	154862941	154862941	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:154862941G>T	ENST00000287907.2	+	1	908	c.332G>T	c.(331-333)cGg>cTg	p.R111L	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.R25R|AC093726.4_ENST00000395731.2_Silent_p.R25R	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	111						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CAGCTAGGTCGGAGGCTGTGC	0.667000													12	30					1.5842e-08	2.41702e-08	0.001855	1	0
MCM7	4176	broad.mit.edu	37	7	99691888	99691888	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:99691888C>T	ENST00000303887.5	-	13	2401	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M	MCM7_ENST00000354230.3_Missense_Mutation_p.V410M|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	586	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTCATCTCCACGTATGCTGCT	0.577000													11	60					0	0	0.008291	0	0
C6orf118	168090	broad.mit.edu	37	6	165715112	165715112	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:165715112C>A	ENST00000543069.1	-	2	968	c.387G>T	c.(385-387)aaG>aaT	p.K129N	C6orf118_ENST00000230301.8_Missense_Mutation_p.K233N			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	233										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGAAGTCATTCTTCAGGAGAT	0.607000													21	41					1.01871e-10	1.63445e-10	0.008871	1	0
LOC101928517	101928517	broad.mit.edu	37	19	51671001	51671001	+	RNA	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:51671001C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							TCCACCTCCTCGGTGATCCCT	0.542000													5	23					0	0	0.000602	0	0
ZNF611	81856	broad.mit.edu	37	19	53209368	53209368	+	Missense_Mutation	SNP	G	G	A	rs146528210		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:53209368G>A	ENST00000543227.1	-	6	1214	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ZNF611_ENST00000540744.1_Missense_Mutation_p.R314C|ZNF611_ENST00000602162.1_Missense_Mutation_p.R245C|ZNF611_ENST00000319783.1_Missense_Mutation_p.R314C|ZNF611_ENST00000595798.1_Missense_Mutation_p.R245C|ZNF611_ENST00000453741.2_Missense_Mutation_p.R245C	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CAATTGTAACGTTTTACTCCA	0.398000													5	77					0	0	0.001168	0	0
ASNA1	439	broad.mit.edu	37	19	12848400	12848400	+	Silent	SNP	A	A	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:12848400A>C	ENST00000591090.1	+	2	183	c.81A>C	c.(79-81)acA>acC	p.T27T	ASNA1_ENST00000357332.3_Silent_p.T27T			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	27					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TGGAGCCTACACTTAGCAACA	0.627000													7	14					0	0	0.001984	0	0
GPR112	139378	broad.mit.edu	37	X	135429438	135429438	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:135429438C>T	ENST00000394143.1	+	6	3864	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	GPR112_ENST00000370652.1_Silent_p.F1191F|GPR112_ENST00000394141.1_Silent_p.F986F|GPR112_ENST00000412101.1_Silent_p.F986F|GPR112_ENST00000287534.4_Silent_p.F1128F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1191					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATATACTTTCAGTGGTGGTG	0.473000													72	25					0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581232	24581232	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:24581232C>T	ENST00000535378.1	-	8	1816	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	KIAA0319_ENST00000543707.1_Missense_Mutation_p.G401R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G401R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G356R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G401R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	401	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.G401R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACATAAAGTCCGACGGACAAC	0.423000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	105					0	0	0.001523	0	0
A1CF	29974	broad.mit.edu	37	10	52619639	52619639	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:52619639C>T	ENST00000282641.2	-	3	249	c.62G>A	c.(61-63)cGc>cAc	p.R21H	A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.1_Missense_Mutation_p.R21H|A1CF_ENST00000373997.3_Missense_Mutation_p.R21H|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000373993.1_Missense_Mutation_p.R21H|A1CF_ENST00000395495.1_Missense_Mutation_p.R21H	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	21					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GACCAGTGCGCGGAGGGCTGC	0.478000													21	34					0	0	0.002780	0	0
NRXN3	9369	broad.mit.edu	37	14	79933568	79933568	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:79933568C>T	ENST00000281127.7	+	2	1131	c.252C>T	c.(250-252)ggC>ggT	p.G84G	NRXN3_ENST00000554719.1_Silent_p.G716G|NRXN3_ENST00000557594.1_Silent_p.G84G|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Silent_p.G716G|NRXN3_ENST00000428277.2_Silent_p.G84G	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	84					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTGCAGCTGGCGCTACGTACA	0.557000													8	27					0	0	0.004482	0	0
ARMC10	83787	broad.mit.edu	37	7	102738868	102738868	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:102738868G>T	ENST00000323716.3	+	7	1292	c.900G>T	c.(898-900)caG>caT	p.Q300H	ARMC10_ENST00000425331.1_Missense_Mutation_p.Q241H|ARMC10_ENST00000541300.1_Missense_Mutation_p.Q182H|ARMC10_ENST00000441711.2_Missense_Mutation_p.Q265H|ARMC10_ENST00000454559.1_Missense_Mutation_p.Q206H|ARMC10_ENST00000428183.2_Missense_Mutation_p.Q241H	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	300					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGCTGTGCAGCCTACTTTCA	0.403000													16	63					1.74807e-11	2.84661e-11	0.002096	1	0
RALGPS2	55103	broad.mit.edu	37	1	178871291	178871291	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:178871291G>A	ENST00000367635.3	+	18	1913	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	RALGPS2_ENST00000367634.2_Missense_Mutation_p.M499I|RALGPS2_ENST00000324778.4_Missense_Mutation_p.M490I	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	525	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGATGGTGATGATGGCTGATG	0.388000													10	86					0	0	0.000978	0	0
LAMC3	10319	broad.mit.edu	37	9	133901891	133901891	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:133901891C>T	ENST00000361069.4	+	2	726	c.593C>T	c.(592-594)tCc>tTc	p.S198F	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	198	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCGACATCTCCCCGCTGAGT	0.701000													9	22					0	0	0.004482	0	0
TOP1MT	116447	broad.mit.edu	37	8	144403486	144403486	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144403486C>A	ENST00000523676.1	-	9	1142	c.737G>T	c.(736-738)cGc>cTc	p.R246L	TOP1MT_ENST00000519148.1_Missense_Mutation_p.R246L|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R246L|TOP1MT_ENST00000329245.4_Missense_Mutation_p.R344L			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	344					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GTGCTCCACGCGGAGGGAACA	0.607000													29	33					3.99451e-17	6.95577e-17	0.001786	1	0
FAM135B	51059	broad.mit.edu	37	8	139151264	139151264	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:139151264C>T	ENST00000395297.1	-	18	4036	c.3866G>A	c.(3865-3867)cGc>cAc	p.R1289H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACATTTGCGCAAATCAGC	0.438000										HNSCC(54;0.14)			18	56					0	0	0.008871	0	0
THOC2	57187	broad.mit.edu	37	X	122755304	122755304	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:122755304C>T	ENST00000245838.8	-	31	3951	c.3920G>A	c.(3919-3921)cGg>cAg	p.R1307Q	THOC2_ENST00000355725.4_Missense_Mutation_p.R1307Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R1192Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1307	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTATTTGGCCGCTCTTCCTT	0.393000													7	91					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9047583	9047583	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9047583A>G	ENST00000397910.4	-	5	34251	c.34048T>C	c.(34048-34050)Tgg>Cgg	p.W11350R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11352	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						TGAGTAACCCATGAGGCTGTT	0.507000													75	174					0	0	0.003610	0	0
KPNA4	3840	broad.mit.edu	37	3	160219947	160219947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:160219947C>G	ENST00000334256.4	-	17	1816	c.1511G>C	c.(1510-1512)gGa>gCa	p.G504A		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	504					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCAAATGTTCCGCCTTGAAT	0.348000													15	205					0	0	0.002299	0	0
NCOA3	8202	broad.mit.edu	37	20	46281792	46281792	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:46281792T>C	ENST00000372004.3	+	22	4443	c.4227T>C	c.(4225-4227)tcT>tcC	p.S1409S	NCOA3_ENST00000341724.6_Silent_p.S1339S|NCOA3_ENST00000371997.3_Silent_p.S1404S|NCOA3_ENST00000371998.3_Silent_p.S1413S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1413	Met-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCCATGTCTGGCATGCCTA	0.463000													44	49					0	0	0.002222	0	0
IGF1R	3480	broad.mit.edu	37	15	99434760	99434760	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:99434760G>A	ENST00000268035.6	+	3	1458	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.A283T|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	283					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGACTTCTGCGCCAACATCCT	0.637000													11	70					0	0	0.008291	0	0
IKBKB	3551	broad.mit.edu	37	8	42171930	42171930	+	Silent	SNP	C	C	T	rs150493359		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:42171930C>T	ENST00000520810.1	+	9	969	c.783C>T	c.(781-783)taC>taT	p.Y261Y	IKBKB_ENST00000416505.2_Silent_p.Y202Y|IKBKB_ENST00000379708.3_Silent_p.Y38Y|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.Y259Y	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	261	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTACCCTACCCCAATAATC	0.433000													42	90					0	0	0.003610	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596992	142596992	+	Splice_Site	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:142596992C>A	ENST00000370503.2	-	2	162		c.e2-1		GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3											endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTGCATCTGGTAAGAAA	0.418000													45	15					2.00842e-17	3.50668e-17	0.002522	1	0
NAA25	80018	broad.mit.edu	37	12	112512522	112512522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:112512522G>A	ENST00000261745.4	-	9	1071	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	275						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCAATCAGTCGAAAGACAGAA	0.393000													25	145					0	0	0.002836	0	0
PURG	29942	broad.mit.edu	37	8	30890041	30890041	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30890041C>G	ENST00000475541.1	-	1	1190	c.258G>C	c.(256-258)aaG>aaC	p.K86N	PURG_ENST00000339382.2_Missense_Mutation_p.K86N	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	86						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTTCGGCTATCTTTAGGAAGC	0.552000													7	26					0	0	0.006214	0	0
OPN5	221391	broad.mit.edu	37	6	47775957	47775957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:47775957C>A	ENST00000489301.2	+	5	909	c.824C>A	c.(823-825)tCa>tAa	p.S275*	OPN5_ENST00000371211.2_Nonsense_Mutation_p.S275*|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Nonsense_Mutation_p.S275*			Q6U736	OPN5_HUMAN	opsin 5	275					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTGTGTGGTCAGCTTTTGGA	0.463000													71	131					5.98616e-33	1.13964e-32	0.003610	1	0
COLGALT1	79709	broad.mit.edu	37	19	17688840	17688840	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:17688840G>A	ENST00000252599.4	+	9	1328	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		TACCACGGCCGGCCCCTCACC	0.632000													11	47					0	0	0.001855	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471641	106471641	+	RNA	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:106471641G>A	ENST00000390595.2	-	0	82																											CTTACCTGTGGCTGCTGCCAC	0.572000													11	11					0	0	0.001855	0	0
PDLIM1	9124	broad.mit.edu	37	10	97050586	97050586	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:97050586G>A	ENST00000329399.6	-	1	195	c.87C>T	c.(85-87)gcC>gcT	p.A29A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	29	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCCGGGAAATGGCGAGAGGCT	0.706000													9	21					0	0	0.004482	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961004	143961004	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:143961004C>G	ENST00000292427.4	-	1	258	c.226G>C	c.(226-228)Ggg>Cgg	p.G76R	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G76R|CYP11B1_ENST00000517471.1_Missense_Mutation_p.G76R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	76					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AAAATGGGCCCTAGTTCCTGG	0.632000									Familial Hyperaldosteronism type I				31	69					0	0	0.002445	0	0
SLC38A6	145389	broad.mit.edu	37	14	61519120	61519120	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:61519120C>G	ENST00000267488.4	+	16	1460	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	SLC38A6_ENST00000354886.2_Intron|SLC38A6_ENST00000456840.2_Intron	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	448					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTTTAGCACTCATCATTTTTG	0.289000													4	9					0	0	0.000602	0	0
CPSF1	29894	broad.mit.edu	37	8	145626157	145626157	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:145626157C>T	ENST00000349769.3	-	7	688	c.594G>A	c.(592-594)gaG>gaA	p.E198E		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	198					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGAGCAGCTTCTCGTCTAGGG	0.637000													9	44					0	0	0.001368	0	0
ZZEF1	23140	broad.mit.edu	37	17	3966057	3966057	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:3966057C>T	ENST00000381638.2	-	30	4997	c.4873G>A	c.(4873-4875)Gat>Aat	p.D1625N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1625							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTGGTAAAATCTTTCTGACAG	0.413000													4	7					0	0	0.000602	0	0
BORA	79866	broad.mit.edu	37	13	73320896	73320896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:73320896G>A	ENST00000390667.5	+	10	1226	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T	BORA_ENST00000377815.3_Missense_Mutation_p.A307T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	377					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										CTCATCACCCGCCATGGATGC	0.438000													33	68					0	0	0.003271	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179296770	179296770	+	Splice_Site	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:179296770T>A	ENST00000356834.3	-	17	2827	c.2791_splice	c.e17+1	p.P930_splice	TBC1D9B_ENST00000355235.3_Splice_Site_p.P930_splice|TBC1D9B_ENST00000519746.1_Splice_Site_p.P106_splice|TBC1D9B_ENST00000444477.2_Splice_Site_p.P88_splice	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	930						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTCTCACCTGGGGGAAGGT	0.632000													6	7					0	0	0.001168	0	0
MDC1	9656	broad.mit.edu	37	6	30673202	30673202	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30673202G>T	ENST00000376406.3	-	10	4405	c.3758C>A	c.(3757-3759)tCc>tAc	p.S1253Y	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S989Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1253	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.532000								Other conserved DNA damage response genes					64	262					7.65386e-43	1.50541e-42	0.003610	1	0
BAI2	576	broad.mit.edu	37	1	32221746	32221746	+	Missense_Mutation	SNP	G	G	C	rs149675901		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:32221746G>C	ENST00000373658.3	-	4	1033	c.692C>G	c.(691-693)gCc>gGc	p.A231G	BAI2_ENST00000398556.3_Missense_Mutation_p.A234G|BAI2_ENST00000398547.1_Missense_Mutation_p.A219G|BAI2_ENST00000257070.4_Missense_Mutation_p.A231G|BAI2_ENST00000398538.1_Missense_Mutation_p.A219G|BAI2_ENST00000398542.1_Missense_Mutation_p.A219G|BAI2_ENST00000373655.2_Missense_Mutation_p.A231G|BAI2_ENST00000527361.1_Missense_Mutation_p.A231G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	231					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A231G(2)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTGGAGCCGGCCCCCGCCTC	0.711000													5	41					0	0	0.006122	0	0
HSD17B1	3292	broad.mit.edu	37	17	40705593	40705593	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:40705593T>C	ENST00000585807.1	+	3	4122	c.402T>C	c.(400-402)ggT>ggC	p.G134G	RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.G134G	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	134					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	AGAGGCGCGGTTCGGGACGCG	0.637000													21	42					0	0	0.005443	0	0
MAGI3	260425	broad.mit.edu	37	1	114193672	114193672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:114193672G>T	ENST00000369615.1	+	14	2346	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*	MAGI3_ENST00000369611.4_Nonsense_Mutation_p.E762*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.E787*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.E762*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	787	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGCAGCTGAGAAAGATGG	0.418000													18	20					2.94398e-08	4.46037e-08	0.007413	1	0
ATP2B4	493	broad.mit.edu	37	1	203708793	203708793	+	Silent	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:203708793A>G	ENST00000357681.5	+	21	4552	c.3429A>G	c.(3427-3429)ccA>ccG	p.P1143P	ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1179					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGTTGCCACGAACACCAC	0.502000													23	51					0	0	0.002780	0	0
RAG1	5896	broad.mit.edu	37	11	36595801	36595801	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:36595801G>T	ENST00000299440.5	+	2	1059	c.947G>T	c.(946-948)tGc>tTc	p.C316F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	316					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGCCGGGTCTGCATTCTCAGA	0.507000									Familial Hemophagocytic Lymphohistiocytosis				34	32					1.71269e-34	3.27973e-34	0.004289	1	0
TGM4	7047	broad.mit.edu	37	3	44952515	44952515	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:44952515G>C	ENST00000296125.4	+	12	1740	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	558					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTAGATGATGAGCCAGTTAT	0.458000													21	45					0	0	0.001882	0	0
CGA	1081	broad.mit.edu	37	6	87796070	87796070	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:87796070G>C	ENST00000369582.2	-	3	271	c.171C>G	c.(169-171)ttC>ttG	p.F57L		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	57					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATGCTCTAGAGAAGCAGCAGC	0.473000													50	113					0	0	0.003610	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000													19	65					0	0	0.001882	0	0
EHMT1	79813	broad.mit.edu	37	9	140728957	140728957	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:140728957G>A	ENST00000460843.1	+	26	3724	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1233	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCGCCTGATCGAGGCCGGCGA	0.697000													6	32					0	0	0.004482	0	0
GLRA4	441509	broad.mit.edu	37	X	102979899	102979899	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:102979899G>T	ENST00000372617.4	-	2	549	c.129C>A	c.(127-129)tcC>tcA	p.S43S		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	43						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AATCAGAGGGGGACATGGGCT	0.468000													7	3					0.00307968	0.00433412	0.003080	1	0
CCDC30	728621	broad.mit.edu	37	1	43011090	43011090	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:43011090C>A	ENST00000428554.2	+	11	1408	c.265C>A	c.(265-267)Ctt>Att	p.L89I	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.L89I|CCDC30_ENST00000340612.4_Missense_Mutation_p.L89I			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	89										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGTCTTGAAGCTTTCACAAGA	0.284000													21	17					4.54149e-19	8.16967e-19	0.002299	1	0
RBMX2	51634	broad.mit.edu	37	X	129546423	129546423	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:129546423A>T	ENST00000305536.6	+	6	634	c.570A>T	c.(568-570)agA>agT	p.R190S		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	190	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CGTCACCCAGACGCAAGACAG	0.483000													33	5					0	0	0.002096	0	0
CLIP2	7461	broad.mit.edu	37	7	73753270	73753270	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:73753270A>G	ENST00000223398.6	+	3	941	c.614A>G	c.(613-615)aAc>aGc	p.N205S	CLIP2_ENST00000361545.5_Missense_Mutation_p.N205S|CLIP2_ENST00000395060.1_Missense_Mutation_p.N205S	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	205						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCGGGATCCAACCTCTCAGAC	0.677000													16	33					0	0	0.004990	0	0
DAPK1	1612	broad.mit.edu	37	9	90264868	90264868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:90264868G>A	ENST00000469640.2	+	16	1836	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.W487*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.W487*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.W487*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.W487*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	487					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTGCTGCTTGGCACGGCTATT	0.522000									Chronic Lymphocytic Leukemia, Familial Clustering of				18	42					0	0	0.008871	0	0
ZNF560	147741	broad.mit.edu	37	19	9577625	9577625	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9577625A>T	ENST00000301480.4	-	10	2211	c.1998T>A	c.(1996-1998)agT>agA	p.S666R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACAAGACCTACTGTAAGCTT	0.388000													50	76					0	0	0.003610	0	0
RNF113B	140432	broad.mit.edu	37	13	98828638	98828638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:98828638G>A	ENST00000267291.6	-	1	881	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	285							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGGTGGCCCGGAAGTGCTCC	0.557000													18	85					0	0	0.007413	0	0
PHF3	23469	broad.mit.edu	37	6	64401851	64401851	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:64401851T>G	ENST00000262043.3	+	5	2754	c.2414T>G	c.(2413-2415)cTt>cGt	p.L805R	PHF3_ENST00000393387.1_Missense_Mutation_p.L805R			Q92576	PHF3_HUMAN	PHD finger protein 3	805					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGTGAAAAGCTTGGATTATCA	0.338000													12	20					0	0	0.001368	0	0
TIAM1	7074	broad.mit.edu	37	21	32624279	32624279	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:32624279T>C	ENST00000286827.3	-	6	1661	c.1190A>G	c.(1189-1191)aAc>aGc	p.N397S	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.N397S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	397					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTCTCGCTGTTGGTGGTGCT	0.687000													18	29					0	0	0.008871	0	0
GMEB2	26205	broad.mit.edu	37	20	62234382	62234382	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:62234382T>C	ENST00000266068.1	-	3	771	c.293A>G	c.(292-294)gAc>gGc	p.D98G	GMEB2_ENST00000370069.1_Missense_Mutation_p.D47G|GMEB2_ENST00000370077.1_Missense_Mutation_p.D98G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	98	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGCTCTGCTGTCTCCACAGGT	0.532000													23	88					0	0	0.003330	0	0
DPPA5	340168	broad.mit.edu	37	6	74063748	74063748	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:74063748G>A	ENST00000370370.3	-	2	189	c.120C>T	c.(118-120)gaC>gaT	p.D40D		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	40	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TTCGAGATCCGTCCGGGCCTG	0.612000													11	40					0	0	0.008291	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													5	89					0	0	0.000602	0	0
SACS	26278	broad.mit.edu	37	13	23909308	23909308	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:23909308C>A	ENST00000382298.3	-	10	9295	c.8707G>T	c.(8707-8709)Gtt>Ttt	p.V2903F	SACS_ENST00000402364.1_Missense_Mutation_p.V2153F|SACS_ENST00000382292.3_Missense_Mutation_p.V2903F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2903					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGAACACCAACTCCATTATCA	0.418000													22	41					0.000295444	0.00042401	0.002299	1	0
ABCC9	10060	broad.mit.edu	37	12	22063217	22063217	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:22063217G>T	ENST00000261200.4	-	8	1193	c.1194C>A	c.(1192-1194)ctC>ctA	p.L398L	ABCC9_ENST00000345162.2_Silent_p.L398L|ABCC9_ENST00000261201.4_Silent_p.L398L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	398	ABC transmembrane type-1 1.				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)	TAGACGTAGAGAGCCTAAGGA	0.353000													8	58					2.17888e-05	3.19015e-05	0.006214	1	0
FUNDC2	65991	broad.mit.edu	37	X	154261754	154261754	+	Silent	SNP	C	C	T	rs147164809		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:154261754C>T	ENST00000369498.3	+	2	464	c.210C>T	c.(208-210)ttC>ttT	p.F70F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	70						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAGCTGTTCGGGCAGGAAT	0.458000													9	55					0	0	0.004482	0	0
OR4C16	219428	broad.mit.edu	37	11	55340173	55340173	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:55340173C>A	ENST00000314634.3	+	1	570	c.570C>A	c.(568-570)acC>acA	p.T190T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTCAGAAACCTATGTGGTTA	0.433000													33	43					6.00712e-18	1.05732e-17	0.002445	1	0
KCNA6	3742	broad.mit.edu	37	12	4919476	4919476	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:4919476G>A	ENST00000433855.1	+	1	1135	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	KCNA6_ENST00000280684.3_Missense_Mutation_p.R90Q	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	90						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GACCGCAACCGGCCCAGCTTC	0.647000										HNSCC(72;0.22)			40	50					0	0	0.006999	0	0
IGLV4-69	28784	broad.mit.edu	37	22	22385588	22385588	+	RNA	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:22385588A>T	ENST00000390282.2	+	0	137				PRAMEF24P_ENST00000337471.4_RNA																							GTGCTGACTCAATCGCCCTCT	0.572000													12	28					0	0	0.001368	0	0
SETBP1	26040	broad.mit.edu	37	18	42531907	42531907	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:42531907G>T	ENST00000282030.5	+	4	2898	c.2602G>T	c.(2602-2604)Gac>Tac	p.D868Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	868			D -> A (in SGMFS).|D -> N (in SGMFS).			nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCCCCAGCGACAGCGGCAT	0.552000									Schinzel-Giedion syndrome				39	22					7.53189e-24	1.40524e-23	0.007835	1	0
FBXW7	55294	broad.mit.edu	37	4	153247228	153247228	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:153247228A>T	ENST00000281708.4	-	10	2803	c.1574T>A	c.(1573-1575)gTg>gAg	p.V525E	FBXW7_ENST00000603841.1_Missense_Mutation_p.V525E|FBXW7_ENST00000296555.5_Missense_Mutation_p.V407E|FBXW7_ENST00000393956.3_Missense_Mutation_p.V349E|FBXW7_ENST00000603548.1_Missense_Mutation_p.V525E|FBXW7_ENST00000263981.5_Missense_Mutation_p.V445E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	525					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGGATCCCACACCTTTACCAT	0.428000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								39	30					0	0	0.005524	0	0
PURG	29942	broad.mit.edu	37	8	30889786	30889786	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30889786C>G	ENST00000475541.1	-	1	1445	c.513G>C	c.(511-513)ctG>ctC	p.L171L	PURG_ENST00000339382.2_Silent_p.L171L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	171						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AGTCTGTTTTCAGGACACTGT	0.527000													15	74					0	0	0.004007	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069375	114069375	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:114069375G>A	ENST00000462705.1	-	11	2152	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	ZBTB20_ENST00000481632.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A444V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A444V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A517V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCCACTGCCCGCGGGCTGGGT	0.622000													12	68					0	0	0.001368	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751528	140751528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:140751528G>T	ENST00000576222.1	+	1	1698	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGACCACGAGCAGCTGCG	0.687000													13	19					1.5842e-08	2.41702e-08	0.001855	1	0
NPAP1	23742	broad.mit.edu	37	15	24921238	24921238	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:24921238C>A	ENST00000329468.2	+	1	698	c.224C>A	c.(223-225)cCt>cAt	p.P75H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGTCCTCTCCCTCGGGCTGCG	0.711000													13	35					4.36969e-10	6.90898e-10	0.001855	1	0
ATAD2B	54454	broad.mit.edu	37	2	23980963	23980963	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:23980963G>A	ENST00000238789.5	-	25	3746	c.3403C>T	c.(3403-3405)Cgg>Tgg	p.R1135W	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1135							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTTCTCCGAACCCGAACT	0.323000													9	43					0	0	0.006214	0	0
NALCN	259232	broad.mit.edu	37	13	101762992	101762992	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:101762992G>T	ENST00000251127.6	-	20	2423	c.2342C>A	c.(2341-2343)tCt>tAt	p.S781Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	781						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S781Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTTCAAGAGATTTTCCCCT	0.383000													23	64					6.12954e-19	1.0966e-18	0.004656	1	0
RPL23AP82	284942	broad.mit.edu	37	22	51237125	51237125	+	RNA	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:51237125G>A	ENST00000480246.1	+	0	375					NR_026982.1																						TCCTAAAGCCGAAGCCAAAGC	0.448000													21	83					0	0	0.002096	0	0
MDC1	9656	broad.mit.edu	37	6	30672319	30672319	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30672319G>C	ENST00000376406.3	-	10	5288	c.4641C>G	c.(4639-4641)gtC>gtG	p.V1547V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V1283V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1547	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGGGTGACAGGTTGGT	0.567000								Other conserved DNA damage response genes					48	209					0	0	0.003610	0	0
BFSP2	8419	broad.mit.edu	37	3	133191346	133191346	+	Missense_Mutation	SNP	G	G	T	rs141155612		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:133191346G>T	ENST00000302334.2	+	6	1270	c.1181G>T	c.(1180-1182)cGc>cTc	p.R394L	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	394	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTGCTGGCCCGCAAGTGCCAG	0.662000													23	9					5.35356e-11	8.61053e-11	0.002780	1	0
ADH6	130	broad.mit.edu	37	4	100131356	100131356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:100131356G>T	ENST00000394897.1	-	5	532	c.450C>A	c.(448-450)taC>taA	p.Y150*	ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Nonsense_Mutation_p.Y150*|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Nonsense_Mutation_p.Y150*|RP11-696N14.1_ENST00000506160.1_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	150					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTATCACTGTGTATTCACAGA	0.433000													37	61					8.73648e-17	1.5013e-16	0.004289	1	0
HOMER2	9455	broad.mit.edu	37	15	83527813	83527813	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:83527813C>G	ENST00000304231.8	-	5	687	c.495G>C	c.(493-495)gaG>gaC	p.E165D	HOMER2_ENST00000399166.2_Missense_Mutation_p.E154D|HOMER2_ENST00000426485.1_Missense_Mutation_p.E165D|HOMER2_ENST00000450735.2_Missense_Mutation_p.E154D	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	165					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GCTTGTCATTCTCAGACTTCA	0.507000													5	196					0	0	0.000602	0	0
ZNF646	9726	broad.mit.edu	37	16	31088376	31088376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:31088376G>A	ENST00000394979.2	+	1	1154	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C244Y			O15015	ZN646_HUMAN	zinc finger protein 646	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGTCAGTGTGGCAAGACC	0.582000													6	46					0	0	0.001168	0	0
ATCAY	85300	broad.mit.edu	37	19	3907911	3907911	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:3907911C>A	ENST00000450849.2	+	5	1005	c.538C>A	c.(538-540)Cac>Aac	p.H180N	ATCAY_ENST00000398448.3_Missense_Mutation_p.H186N|ATCAY_ENST00000301260.6_Missense_Mutation_p.H180N|ATCAY_ENST00000600960.1_Missense_Mutation_p.H180N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	180	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGTGGTCACCCACGGAGGTGA	0.667000													7	16					0.00448238	0.00629461	0.004482	1	0
FAM120B	84498	broad.mit.edu	37	6	170628053	170628053	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:170628053C>A	ENST00000476287.1	+	2	1683	c.1575C>A	c.(1573-1575)caC>caA	p.H525Q	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.H537Q|FAM120B_ENST00000537664.1_Missense_Mutation_p.H548Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	525					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGTGTACACACGCTGAAATCA	0.378000													15	42					1.3612e-06	2.02015e-06	0.003163	1	0
FCER1A	2205	broad.mit.edu	37	1	159277544	159277544	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:159277544G>T	ENST00000368115.1	+	6	695	c.596G>T	c.(595-597)cGt>cTt	p.R199L	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413000													51	49					1.54043e-34	2.95854e-34	0.003610	1	0
ABCF1	23	broad.mit.edu	37	6	30557701	30557701	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30557701G>T	ENST00000326195.8	+	22	2295	c.2183G>T	c.(2182-2184)cGc>cTc	p.R728L	ABCF1_ENST00000396515.4_Missense_Mutation_p.R121L|ABCF1_ENST00000376545.3_Missense_Mutation_p.R690L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	728	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGCCTGGGCCGCTTCGGCCTG	0.612000													54	124					3.30226e-22	6.09146e-22	0.003610	1	0
HNRNPU	3192	broad.mit.edu	37	1	245026026	245026026	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:245026026C>G	ENST00000444376.2	-	2	875	c.641G>C	c.(640-642)gGc>gCc	p.G214A	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G233A	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	233					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTCTGTTTTGCCGTCCCCTAA	0.443000													47	77					0	0	0.003214	0	0
MROH2B	133558	broad.mit.edu	37	5	41048473	41048473	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:41048473A>G	ENST00000399564.4	-	16	2087	c.1637T>C	c.(1636-1638)gTa>gCa	p.V546A	MROH2B_ENST00000506092.2_Missense_Mutation_p.V101A	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCATAGGTCTACCAATTTTGG	0.473000													34	72					0	0	0.002836	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223122	99223122	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:99223122C>A	ENST00000547776.2	-	19	2895	c.2896G>T	c.(2896-2898)Ggt>Tgt	p.G966C	ANKS1B_ENST00000549493.2_Missense_Mutation_p.G192C|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G192C|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G966C|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547446.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	966						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTGTGATTACCACTGGGTTCC	0.443000													22	38					7.41877e-09	1.13987e-08	0.001882	1	0
CILP	8483	broad.mit.edu	37	15	65489842	65489842	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:65489842G>A	ENST00000261883.4	-	9	2948	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	928					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.P928T(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGTTGAAGGGGACTGTGTTG	0.522000													35	64					0	0	0.004289	0	0
OXCT2	64064	broad.mit.edu	37	1	40235514	40235514	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:40235514C>T	ENST00000327582.5	-	1	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	472					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	p.V472L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGTCAAACACGGCCTTCTCG	0.587000													83	44					0	0	0.003610	0	0
GART	2618	broad.mit.edu	37	21	34878305	34878305	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:34878305C>T	ENST00000381831.3	-	19	2822	c.2559G>A	c.(2557-2559)gcG>gcA	p.A853A	GART_ENST00000381839.3_Silent_p.A853A|GART_ENST00000381815.4_Silent_p.A853A|GART_ENST00000543717.1_Silent_p.A405A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	853	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAGCTCTTTCCGCTTTATCTA	0.443000													6	55					0	0	0.003080	0	0
OR2W5	441932	broad.mit.edu	37	1	247655122	247655122	+	RNA	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:247655122C>A	ENST00000522351.1	+	0	753							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATGAAGTCAGCAGCAGGGCGA	0.577000													27	61					1.42536e-11	2.32689e-11	0.004656	1	0
KCNMA1	3778	broad.mit.edu	37	10	78674745	78674745	+	Missense_Mutation	SNP	G	G	A	rs143599540	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:78674745G>A	ENST00000286627.5	-	23	3743	c.2791C>T	c.(2791-2793)Cgt>Tgt	p.R931C	KCNMA1_ENST00000354353.5_Missense_Mutation_p.R992C|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R931C|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R989C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R972C|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R989C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R993C|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R931C	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	989					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATGGTTGACGTAACATCCCG	0.483000													22	167					0	0	0.002780	0	0
SF3B6	51639	broad.mit.edu	37	2	24290706	24290706	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:24290706C>T	ENST00000233468.4	-	4	517	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		102					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTTGTGTCCATCTTCTGA	0.353000													11	172					0	0	0.000978	0	0
NDST4	64579	broad.mit.edu	37	4	115767118	115767118	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:115767118G>T	ENST00000264363.2	-	10	2654	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	659	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAAGTCACTTGTAGTATTGGA	0.388000													24	42					1.1804e-14	1.98149e-14	0.003954	1	0
HCN1	348980	broad.mit.edu	37	5	45695881	45695881	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45695881C>A	ENST00000303230.4	-	1	372	c.315G>T	c.(313-315)ggG>ggT	p.G105G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	105	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTTGTTGACCCCGGGCTGCA	0.622000													15	36					0.000422831	0.000605502	0.004007	1	0
ZNF131	7690	broad.mit.edu	37	5	43161390	43161390	+	Silent	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:43161390A>T	ENST00000509634.1	+	4	867	c.411A>T	c.(409-411)acA>acT	p.T137T	ZNF131_ENST00000509156.1_Silent_p.T137T|ZNF131_ENST00000306938.4_Silent_p.T137T|ZNF131_ENST00000505606.2_Silent_p.T137T|ZNF131_ENST00000399534.1_Silent_p.T137T|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAATACCACAGGAAAAAATG	0.363000													18	46					0	0	0.007413	0	0
SON	6651	broad.mit.edu	37	21	34932259	34932259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:34932259G>A	ENST00000300278.4	+	7	6763	c.6734G>A	c.(6733-6735)tGc>tAc	p.C2245Y	SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					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						GTAACTCGATGCAATTCACTT	0.488000													8	19					0	0	0.003080	0	0
COL4A5	1287	broad.mit.edu	37	X	107844632	107844632	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:107844632G>T	ENST00000328300.6	+	26	2202	c.1958G>T	c.(1957-1959)gGg>gTg	p.G653V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G653V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	653	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTCCTAAAGGGGATCCAGGT	0.408000									Alport syndrome with Diffuse Leiomyomatosis				11	2					6.40141e-05	9.30985e-05	0.000978	1	0
CHD7	55636	broad.mit.edu	37	8	61769309	61769309	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:61769309G>A	ENST00000423902.2	+	34	7949	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2490					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)			CAGGCCTTTCGCGCACACCCA	0.483000													31	165					0	0	0.002445	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250865	142250865	+	RNA	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:142250865C>T	ENST00000390360.3	-	0	202																											GAGCCTTAGCCCCAGTCCTAG	0.473000													38	17					0	0	0.004289	0	0
SHPRH	257218	broad.mit.edu	37	6	146271503	146271503	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:146271503C>T	ENST00000367503.3	-	4	1277	c.879G>A	c.(877-879)gtG>gtA	p.V293V	SHPRH_ENST00000367505.2_Silent_p.V293V|SHPRH_ENST00000275233.7_Silent_p.V293V|SHPRH_ENST00000438092.2_Silent_p.V293V	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	293					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCTGGACATCCACTTGGATGG	0.473000													51	97					0	0	0.003610	0	0
PAPPA	5069	broad.mit.edu	37	9	118974201	118974201	+	Missense_Mutation	SNP	G	G	T	rs144109251		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:118974201G>T	ENST00000328252.3	+	4	2277	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	636					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						ACAACTTCATGAGCTATGCAG	0.512000													75	115					5.44642e-36	1.05535e-35	0.003610	1	0
LRIF1	55791	broad.mit.edu	37	1	111490596	111490596	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:111490596C>T	ENST00000369763.4	-	4	2685	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	LRIF1_ENST00000485275.2_Silent_p.K229K|LRIF1_ENST00000494675.1_Silent_p.K229K|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGGTGCATCTTCTTACGCA	0.348000													20	79					0	0	0.002299	0	0
TCF12	6938	broad.mit.edu	37	15	57574756	57574756	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:57574756G>A	ENST00000267811.5	+	19	2324	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	TCF12_ENST00000559703.1_Missense_Mutation_p.E331K|TCF12_ENST00000343827.3_Missense_Mutation_p.E504K|TCF12_ENST00000438423.2_Missense_Mutation_p.E698K|TCF12_ENST00000559710.1_Missense_Mutation_p.E308K|TCF12_ENST00000333725.5_Missense_Mutation_p.E698K|TCF12_ENST00000452095.2_Missense_Mutation_p.E694K|TCF12_ENST00000557843.1_Missense_Mutation_p.E674K|TCF12_ENST00000543579.1_Missense_Mutation_p.E528K|TCF12_ENST00000537840.1_Missense_Mutation_p.E438K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	674					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGGGCTTAGTGAAACTACCAA	0.468000			T	TEC	extraskeletal myxoid chondrosarcoma								25	124					0	0	0.004656	0	0
OR51B2	79345	broad.mit.edu	37	11	5345007	5345007	+	Missense_Mutation	SNP	C	C	A	rs140971687		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5345007C>A	ENST00000328813.2	-	1	575	c.521G>T	c.(520-522)cGt>cTt	p.R174L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAAGCACGTGTGATAAC	0.388000													20	9					4.63292e-17	8.02467e-17	0.008871	1	0
SLC25A16	8034	broad.mit.edu	37	10	70246946	70246946	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:70246946C>T	ENST00000265870.2	-	8	895	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	SLC25A16_ENST00000539557.1_Missense_Mutation_p.R168Q|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	266					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTGCATTCGCCGACGAGTCAC	0.333000													52	125					0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150007	117150007	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:117150007C>A	ENST00000310357.3	-	1	191	c.170G>T	c.(169-171)cGa>cTa	p.R57L	GPRC6A_ENST00000530250.1_Missense_Mutation_p.R57L|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R57L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	57					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTTGTGGTCGTCTGGGAGA	0.403000													11	55					1.61879e-10	2.58453e-10	0.001368	1	0
DOCK11	139818	broad.mit.edu	37	X	117700005	117700005	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:117700005T>C	ENST00000276204.6	+	8	805	c.731T>C	c.(730-732)aTg>aCg	p.M244T	DOCK11_ENST00000276202.7_Missense_Mutation_p.M244T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	244	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAACTCAAGATGTTAGATAAA	0.373000													88	20					0	0	0.003610	0	0
GPRASP2	114928	broad.mit.edu	37	X	101969964	101969964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:101969964C>T	ENST00000543253.1	+	5	1086	c.167C>T	c.(166-168)tCt>tTt	p.S56F	GPRASP2_ENST00000535209.1_Missense_Mutation_p.S56F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S56F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGACCAAGTCTGTGCCTGCG	0.567000													55	16					0	0	0.003610	0	0
CLP1	10978	broad.mit.edu	37	11	57428441	57428441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:57428441C>T	ENST00000533682.1	+	3	1536	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	CLP1_ENST00000302731.4_Missense_Mutation_p.P207S|CLP1_ENST00000529430.1_Missense_Mutation_p.P282S|CLP1_ENST00000525602.1_Missense_Mutation_p.P271S			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	271					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						ACGGGACCTCCCCCACTTTGT	0.542000													51	92					0	0	0.003610	0	0
CACNB2	783	broad.mit.edu	37	10	18807304	18807304	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:18807304C>A	ENST00000396576.2	+	7	1180	c.679C>A	c.(679-681)Cga>Aga	p.R227R	CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Silent_p.R254R|CACNB2_ENST00000377331.2_Silent_p.R230R|CACNB2_ENST00000324631.7_Silent_p.R282R|CACNB2_ENST00000352115.6_Silent_p.R258R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Silent_p.R189R|CACNB2_ENST00000377329.4_Silent_p.R228R|CACNB2_ENST00000377315.4_Silent_p.R234R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	282					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTTCCATGCGACCAGTGGT	0.502000													44	91					3.76525e-18	6.64515e-18	0.003610	1	0
CPXM2	119587	broad.mit.edu	37	10	125530532	125530532	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:125530532C>T	ENST00000241305.3	-	8	1156	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	334					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TATTGGGACACATTTCATTCA	0.433000													36	257					0	0	0.002852	0	0
COL5A2	1290	broad.mit.edu	37	2	189925481	189925481	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:189925481C>A	ENST00000374866.3	-	31	2334	c.2060G>T	c.(2059-2061)gGa>gTa	p.G687V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	687					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCACCTTCTCCAGGAGGCCC	0.383000													29	16					2.2171e-23	4.12469e-23	0.001786	1	0
CADM1	23705	broad.mit.edu	37	11	115049407	115049407	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:115049407C>G	ENST00000542447.2	-	8	1211	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.L400L|CADM1_ENST00000536727.1_Silent_p.L390L|CADM1_ENST00000331581.6_Silent_p.L418L|CADM1_ENST00000452722.2_Silent_p.L389L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	389					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAGCAAGCACAGCATGGCGA	0.542000													52	45					0	0	0.003610	0	0
ERN1	2081	broad.mit.edu	37	17	62135335	62135335	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:62135335G>C	ENST00000433197.2	-	12	1320	c.1225C>G	c.(1225-1227)Cag>Gag	p.Q409E		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	409					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCTGAAGTCTGGTCAACCAGG	0.552000													5	6					0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430667	37430667	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:37430667C>A	ENST00000374660.1	+	7	773	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P225H|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P225H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	281						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCAGGAACACCTGATGAGGCT	0.468000													10	29					9.70103e-10	1.52278e-09	0.008291	1	0
MARCH6	10299	broad.mit.edu	37	5	10405687	10405687	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:10405687C>T	ENST00000274140.5	+	16	1482	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	MARCH6_ENST00000510792.1_Silent_p.V148V|MARCH6_ENST00000503788.1_Silent_p.V345V|MARCH6_ENST00000449913.2_Silent_p.V402V	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	450					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GACCTGGTGTCCTGTGGTTTC	0.323000													38	43					0	0	0.004878	0	0
ZNF260	339324	broad.mit.edu	37	19	37005104	37005104	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:37005104G>A	ENST00000523638.1	-	3	2158	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	ZNF260_ENST00000588993.1_Missense_Mutation_p.S346F|ZNF260_ENST00000593142.1_Missense_Mutation_p.S346F|ZNF260_ENST00000592282.1_Missense_Mutation_p.S346F	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	346					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CACAGTAAGAGATGAGCTTTG	0.423000													12	37					0	0	0.001855	0	0
ZNF479	90827	broad.mit.edu	37	7	57188130	57188130	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:57188130C>T	ENST00000331162.4	-	5	1262	c.992G>A	c.(991-993)gGc>gAc	p.G331D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAAGGCTTTGCCACATTCCTC	0.443000													8	21					0	0	0.003080	0	0
DAAM2	23500	broad.mit.edu	37	6	39869182	39869182	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:39869182G>T	ENST00000538976.1	+	24	3095	c.2913G>T	c.(2911-2913)cgG>cgT	p.R971R	DAAM2_ENST00000274867.4_Silent_p.R972R|DAAM2_ENST00000398904.2_Silent_p.R972R	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R971R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGGCCCGGCAGGATCTAG	0.607000													36	58					1.26612e-14	2.11993e-14	0.003271	1	0
NYNRIN	57523	broad.mit.edu	37	14	24877130	24877130	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:24877130C>T	ENST00000382554.3	+	3	572	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	85					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CGCTACCCACCGATCCTGCAC	0.632000													22	92					0	0	0.001882	0	0
CSMD3	114788	broad.mit.edu	37	8	114111143	114111143	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:114111143G>T	ENST00000297405.5	-	5	1003	c.759C>A	c.(757-759)tcC>tcA	p.S253S	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.S253S|CSMD3_ENST00000343508.3_Silent_p.S213S|CSMD3_ENST00000352409.3_Silent_p.S253S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	253	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTAGGGCTGGATATGATGC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	34					0.00307968	0.00433412	0.003080	1	0
UNC13C	440279	broad.mit.edu	37	15	54306698	54306698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:54306698C>T	ENST00000545554.1	+	1	1598	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L	UNC13C_ENST00000537900.1_Missense_Mutation_p.P533L|UNC13C_ENST00000260323.11_Missense_Mutation_p.P533L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	533					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)		GATGCAACACCTCTCTGGCAC	0.358000													20	30					0	0	0.007413	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538165	27538165	+	RNA	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:27538165A>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GGCTGAGTTGAGGTCTCCTCC	0.522000													62	93					0	0	0.003610	0	0
FAM65A	79567	broad.mit.edu	37	16	67574374	67574374	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:67574374C>T	ENST00000540839.3	+	10	925	c.705C>T	c.(703-705)ttC>ttT	p.F235F	FAM65A_ENST00000042381.4_Silent_p.F215F|FAM65A_ENST00000379312.3_Silent_p.F219F|FAM65A_ENST00000428437.2_Silent_p.F229F|FAM65A_ENST00000422602.2_Silent_p.F235F|FAM65A_ENST00000566522.1_3'UTR			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	219						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCTGGCTTCGCCAGGCTGT	0.592000													16	60					0	0	0.004990	0	0
ZFP14	57677	broad.mit.edu	37	19	36832353	36832353	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:36832353G>T	ENST00000270001.7	-	5	490	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTTGCTTTTGCATTCCCAAT	0.343000													15	72					1.37285e-15	2.33457e-15	0.004007	1	0
KCNH1	3756	broad.mit.edu	37	1	211263942	211263942	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:211263942G>A	ENST00000367007.4	-	4	570	c.401C>T	c.(400-402)aCa>aTa	p.T134I	KCNH1_ENST00000271751.4_Missense_Mutation_p.T134I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	134	PAC.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTGAAAGCTGTTATGTCACT	0.358000													18	24					0	0	0.001523	0	0
SCN1A	6323	broad.mit.edu	37	2	166898884	166898884	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:166898884G>T	ENST00000423058.2	-	12	2111	c.2094C>A	c.(2092-2094)caC>caA	p.H698Q	SCN1A_ENST00000409050.1_Missense_Mutation_p.H670Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.H698Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.H687Q|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	698						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATGGAAACGTGGAAAGAAC	0.358000													46	22					1.7489e-18	3.10335e-18	0.002852	1	0
TPH1	7166	broad.mit.edu	37	11	18057644	18057644	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:18057644T>C	ENST00000250018.2	-	2	725	c.163A>G	c.(163-165)Aga>Gga	p.R55G	TPH1_ENST00000341556.2_Missense_Mutation_p.R55G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	55	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAGTTTCTTCTTTTTGATTTT	0.353000													28	32					0	0	0.001786	0	0
C15orf59	388135	broad.mit.edu	37	15	74032915	74032915	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:74032915C>T	ENST00000569673.1	-	3	1429	c.225G>A	c.(223-225)acG>acA	p.T75T	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.T75T			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	75										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACAGTGGCCGTGGTCCAGT	0.592000													88	129					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22364105	22364105	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:22364105C>G	ENST00000397121.2	-	3	731	c.414G>C	c.(412-414)gaG>gaC	p.E138D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCAAACCTTTCTCTCCAGTAT	0.323000													11	121					0	0	0.001855	0	0
ST18	9705	broad.mit.edu	37	8	53084518	53084518	+	Silent	SNP	C	C	T	rs149814559		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:53084518C>T	ENST00000276480.7	-	10	1586	c.903G>A	c.(901-903)ggG>ggA	p.G301G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACTTAAATTCCCCTTGGCCT	0.527000													22	40					0	0	0.001523	0	0
GUCY2D	3000	broad.mit.edu	37	17	7918083	7918083	+	Splice_Site	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7918083G>T	ENST00000254854.4	+	13	2726		c.e13+1			NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)						intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGCTGCCTCCGTGGGTGCCAG	0.627000													9	17					3.09899e-07	4.63075e-07	0.004482	1	0
NPFFR2	10886	broad.mit.edu	37	4	73012771	73012771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:73012771G>C	ENST00000308744.6	+	4	909	c.811G>C	c.(811-813)Gtc>Ctc	p.V271L	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.V169L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.V172L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	271					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GATCATCTGGGTCCTAGCCAT	0.388000													58	160					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197390857	197390857	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:197390857G>A	ENST00000367397.1	+	2	900	c.42G>A	c.(40-42)atG>atA	p.M14I	CRB1_ENST00000367399.2_Missense_Mutation_p.M521I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.M633I|CRB1_ENST00000535699.1_Missense_Mutation_p.M564I|CRB1_ENST00000544212.1_Missense_Mutation_p.M114I|CRB1_ENST00000367400.3_Missense_Mutation_p.M633I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	633					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTATAATATGCCATCCACAC	0.403000													44	87					0	0	0.002522	0	0
SPTBN5	51332	broad.mit.edu	37	15	42168381	42168381	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:42168381T>A	ENST00000320955.6	-	21	4280	c.4053A>T	c.(4051-4053)acA>acT	p.T1351T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1351					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCGCTTGAGTGTCTGCAGGA	0.637000													8	23					0	0	0.008291	0	0
GNA12	2768	broad.mit.edu	37	7	2834632	2834632	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:2834632G>A	ENST00000275364.3	-	2	617	c.455C>T	c.(454-456)cCg>cTg	p.P152L	GNA12_ENST00000544127.1_Missense_Mutation_p.P76L|GNA12_ENST00000407904.3_Missense_Mutation_p.P93L	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	152					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCTCAGGGCCGGGACGTACAG	0.592000													5	107					0	0	0.000602	0	0
LILRB2	10288	broad.mit.edu	37	19	54779807	54779807	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54779807G>A	ENST00000391748.1	-	13	1772	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	LILRB2_ENST00000434421.1_Missense_Mutation_p.R434W|LILRB2_ENST00000314446.5_Missense_Mutation_p.R549W|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.R550W	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	550					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCTCACCCGAGTGTCCATC	0.622000													55	59					0	0	0.003610	0	0
FMO4	2329	broad.mit.edu	37	1	171300851	171300851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:171300851G>A	ENST00000367749.3	+	6	887	c.557G>A	c.(556-558)cGc>cAc	p.R186H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	186					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGGCAAACGCGTCTTGGTG	0.463000													25	153					0	0	0.004656	0	0
BTNL3	10917	broad.mit.edu	37	5	180429673	180429673	+	Splice_Site	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:180429673G>A	ENST00000342868.6	+	4	859	c.673_splice	c.e4-1	p.E225_splice		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	225					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTTTTTCAGAGACGTTTTTCC	0.458000													28	17					0	0	0.001786	0	0
FCRL1	115350	broad.mit.edu	37	1	157771764	157771764	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157771764C>A	ENST00000358292.3	-	5	878	c.827G>T	c.(826-828)tGt>tTt	p.C276F	FCRL1_ENST00000368176.3_Missense_Mutation_p.C276F|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.C276F	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	276	Ig-like C2-type 3.					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)			GTTGGCCTCACAGGAGTAGTT	0.557000													55	63					1.95512e-22	3.62697e-22	0.003610	1	0
OR1L6	392390	broad.mit.edu	37	9	125512877	125512877	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:125512877C>G	ENST00000373684.1	+	1	859	c.859C>G	c.(859-861)Ctt>Gtt	p.L287V	OR1L6_ENST00000304720.2_Missense_Mutation_p.L251V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TGCAGTAGCCCTTTTCTATGG	0.517000													20	57					0	0	0.003330	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212319	28212319	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:28212319C>A	ENST00000284984.2	-	6	2181	c.1727G>T	c.(1726-1728)gGt>gTt	p.G576V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	576	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GACTCCTCCACCGCACGTTCT	0.493000													20	76					8.00594e-06	1.18278e-05	0.007413	1	0
KCND1	3750	broad.mit.edu	37	X	48822582	48822582	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:48822582C>A	ENST00000218176.3	-	5	2895	c.1598G>T	c.(1597-1599)tGc>tTc	p.C533F	KCND1_ENST00000376477.1_Missense_Mutation_p.C156F	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	533						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCTGCGAGGGCAGCAAGAAGA	0.682000													24	9					4.72057e-08	7.1355e-08	0.003954	1	0
OR5A2	219981	broad.mit.edu	37	11	59189605	59189605	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:59189605C>A	ENST00000302040.4	-	1	844	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATATGGACACCACCTTGTCCC	0.468000													27	14					5.61819e-17	9.70549e-17	0.005443	1	0
MIR541	100126308	broad.mit.edu	37	14	101530856	101530856	+	RNA	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:101530856C>T	ENST00000401360.1	+	0	25					NR_030594.1																						ATTCTGCTGTCGGTCCCACTC	0.587000													22	20					0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82764156	82764156	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:82764156G>A	ENST00000423517.2	-	3	3047	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	PCLO_ENST00000333891.8_Missense_Mutation_p.R904C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	850	Pro-rich.				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						AGACTGAAACGCCTTGACTGC	0.542000													26	241					0	0	0.003330	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803233	185803233	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:185803233C>T	ENST00000302277.6	+	4	3704	c.3110C>T	c.(3109-3111)cCa>cTa	p.P1037L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1037						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATTGATCCCACTAGAAAAC	0.413000													69	23					0	0	0.003610	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734190	26734190	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:26734190T>A	ENST00000396005.3	-	2	712	c.403A>T	c.(403-405)Acg>Tcg	p.T135S	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T135S	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	135					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCACTTACCGTCTGTACAATG	0.423000													136	207					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54301518	54301518	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54301518G>A	ENST00000324134.6	-	8	3074	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	NLRP12_ENST00000345770.5_Missense_Mutation_p.A970V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A969V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A970V|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	969					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGTCTGCAGGCGGGATGTTG	0.582000													17	16					0	0	0.001523	0	0
FAM21B	55747	broad.mit.edu	37	10	47915915	47915915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:47915915C>A	ENST00000358474.5	+	15	1322	c.1322C>A	c.(1321-1323)tCa>tAa	p.S441*		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	441					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AAGCCCTCATCAGAAACAAAG	0.403000													11	130					7.93312e-07	1.18003e-06	0.002450	1	0
IPO5	3843	broad.mit.edu	37	13	98642692	98642692	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:98642692G>A	ENST00000261574.5	+	9	804	c.624G>A	c.(622-624)agG>agA	p.R208R	IPO5_ENST00000490680.1_Silent_p.R190R|IPO5_ENST00000539640.1_Intron	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	190					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTTAGATCAGGACGTTATCTG	0.343000													21	49					0	0	0.001882	0	0
SFMBT2	57713	broad.mit.edu	37	10	7239525	7239525	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:7239525C>G	ENST00000361972.4	-	15	1773	c.1683G>C	c.(1681-1683)gtG>gtC	p.V561V	SFMBT2_ENST00000397167.1_Silent_p.V561V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	561					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TAAGAACCAGCACGCATTTGC	0.483000													31	58					0	0	0.001786	0	0
FBXO7	25793	broad.mit.edu	37	22	32894169	32894169	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:32894169G>A	ENST00000266087.7	+	9	1548	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	FBXO7_ENST00000382058.3_Silent_p.P328P|FBXO7_ENST00000397426.1_Silent_p.P293P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	407					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAATCCCCGAAAGGGCGGT	0.458000													30	112					0	0	0.003755	0	0
LHCGR	3973	broad.mit.edu	37	2	48914940	48914940	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:48914940C>A	ENST00000294954.7	-	11	2017	c.1996G>T	c.(1996-1998)Ggc>Tgc	p.G666C	LHCGR_ENST00000344775.3_Missense_Mutation_p.G604C|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.G639C|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	666					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCAGTGAAGCCATTTTTGCAG	0.428000													80	66					7.2426e-40	1.41599e-39	0.003610	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374195	95374195	+	RNA	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:95374195G>A	ENST00000494840.1	-	0	1666					NR_077228.1																						CATCATCTCTGGGACGTTCAT	0.428000													20	26					0	0	0.007413	0	0
KNDC1	85442	broad.mit.edu	37	10	135015044	135015044	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:135015044C>G	ENST00000304613.3	+	17	3050	c.3029C>G	c.(3028-3030)gCc>gGc	p.A1010G	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1012G|KNDC1_ENST00000368571.2_Missense_Mutation_p.A945G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1010					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCAGCAGGGCCCCCTGCTCA	0.627000													12	60					0	0	0.001368	0	0
RSF1	51773	broad.mit.edu	37	11	77413134	77413134	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:77413134G>A	ENST00000308488.6	-	6	1442	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	RSF1_ENST00000480887.1_Silent_p.A128A|RSF1_ENST00000360355.2_Silent_p.A349A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	380					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTGGTATCTTGGCCTGCTGGT	0.358000													55	72					0	0	0.003610	0	0
TCTN3	26123	broad.mit.edu	37	10	97440281	97440281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:97440281G>A	ENST00000265993.8	-	13	1781	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	TCTN3_ENST00000430368.1_Missense_Mutation_p.P365L|TCTN3_ENST00000371217.4_Missense_Mutation_p.P526L	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		ATGAGCTTGCGGGTTGGACAG	0.458000													35	148					0	0	0.002836	0	0
SLC9A8	23315	broad.mit.edu	37	20	48491309	48491309	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:48491309C>A	ENST00000417961.1	+	11	1284	c.1074C>A	c.(1072-1074)gtC>gtA	p.V358V	SLC9A8_ENST00000539601.1_Silent_p.V123V|SLC9A8_ENST00000541138.1_Silent_p.V42V|SLC9A8_ENST00000361573.2_Silent_p.V342V	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	342						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCTCCCCAGTCACCCAGATCC	0.557000													34	81					1.30015e-28	2.46086e-28	0.004878	1	0
EMR1	2015	broad.mit.edu	37	19	6913740	6913740	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:6913740C>T	ENST00000312053.4	+	11	1236	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	EMR1_ENST00000381407.5_Missense_Mutation_p.S259F|EMR1_ENST00000381404.4_Missense_Mutation_p.S348F|EMR1_ENST00000250572.8_Missense_Mutation_p.S400F|EMR1_ENST00000450315.3_Missense_Mutation_p.S223F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	400	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGACGTCCTCCCTGGCCACA	0.463000													51	74					0	0	0.003610	0	0
LDHD	197257	broad.mit.edu	37	16	75146544	75146544	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:75146544G>C	ENST00000300051.4	-	10	1360	c.1314C>G	c.(1312-1314)gcC>gcG	p.A438A	LDHD_ENST00000450168.2_Silent_p.A415A	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	438							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCAGTTCCTCGGCGTCATCAG	0.607000													13	39					0	0	0.003163	0	0
THADA	63892	broad.mit.edu	37	2	43801646	43801646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:43801646C>G	ENST00000403856.1	-	12	1705	c.1558G>C	c.(1558-1560)Gac>Cac	p.D520H	THADA_ENST00000404790.1_Missense_Mutation_p.D520H|THADA_ENST00000415080.2_Missense_Mutation_p.D230H|THADA_ENST00000405975.2_Missense_Mutation_p.D520H|THADA_ENST00000405006.4_Missense_Mutation_p.D520H|THADA_ENST00000330266.7_Missense_Mutation_p.D230H|THADA_ENST00000402360.2_Missense_Mutation_p.D520H			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	520							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGCCACTGGTCAATCCAAGAA	0.383000													11	53					0	0	0.008291	0	0
MUC17	140453	broad.mit.edu	37	7	100682580	100682580	+	Missense_Mutation	SNP	C	C	T	rs146245479	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:100682580C>T	ENST00000306151.4	+	3	7947	c.7883C>T	c.(7882-7884)cCt>cTt	p.P2628L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2628	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTCAACTCCTAGTGAAGTA	0.458000													255	106					0	0	0.003610	0	0
SHPRH	257218	broad.mit.edu	37	6	146271502	146271502	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:146271502C>A	ENST00000367503.3	-	4	1278	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	SHPRH_ENST00000367505.2_Missense_Mutation_p.D294Y|SHPRH_ENST00000275233.7_Missense_Mutation_p.D294Y|SHPRH_ENST00000438092.2_Missense_Mutation_p.D294Y	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	294					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCTGGACATCCACTTGGATG	0.478000													51	96					1.32667e-27	2.49659e-27	0.003610	1	0
C19orf44	84167	broad.mit.edu	37	19	16611661	16611661	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:16611661G>A	ENST00000221671.3	+	2	214	c.58G>A	c.(58-60)Gat>Aat	p.D20N	C19orf44_ENST00000594035.1_Missense_Mutation_p.D20N|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	20										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGACTTCAGTGATGTTTCCTT	0.423000													41	83					0	0	0.008740	0	0
LONP1	9361	broad.mit.edu	37	19	5711885	5711885	+	Missense_Mutation	SNP	G	G	A	rs116591583	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:5711885G>A	ENST00000360614.3	-	4	924	c.767C>T	c.(766-768)gCg>gTg	p.A256V	LONP1_ENST00000540670.2_Missense_Mutation_p.A60V|LONP1_ENST00000590729.1_Missense_Mutation_p.A142V|LONP1_ENST00000585374.1_Missense_Mutation_p.A142V|LONP1_ENST00000593119.1_Missense_Mutation_p.A192V	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	256	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCCAGCTCCGCCGGGTGCCT	0.667000													18	43					0	0	0.004990	0	0
KIRREL3	84623	broad.mit.edu	37	11	126301325	126301325	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:126301325C>A	ENST00000525144.2	-	14	1934	c.1685G>T	c.(1684-1686)cGt>cTt	p.R562L	KIRREL3_ENST00000529097.2_Missense_Mutation_p.R550L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R562L|KIRREL3_ENST00000416561.2_Missense_Mutation_p.R29L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	562					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCTGGGAACGGGCACAGCA	0.607000													16	12					5.01169e-05	7.30499e-05	0.004990	1	0
ATF7	11016	broad.mit.edu	37	12	53925601	53925601	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:53925601A>G	ENST00000420353.2	-	9	1003	c.854T>C	c.(853-855)aTg>aCg	p.M285T	ATF7_ENST00000548446.2_Missense_Mutation_p.M296T|ATF7_ENST00000456903.4_Missense_Mutation_p.M285T|ATF7_ENST00000415113.1_Missense_Mutation_p.M264T|ATF7_ENST00000328463.7_Missense_Mutation_p.M296T|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.M285T	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	296	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GGCTGTCACCATGGTGCTGGC	0.537000													12	22					0	0	0.001368	0	0
GRIP1	23426	broad.mit.edu	37	12	66814550	66814550	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:66814550T>A	ENST00000359742.4	-	15	2028	c.1788A>T	c.(1786-1788)ccA>ccT	p.P596P	GRIP1_ENST00000286445.7_Silent_p.P596P|GRIP1_ENST00000398016.3_Silent_p.P544P			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	596	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGGGTCTCCTGGTTTTCTAC	0.368000													45	82					0	0	0.003610	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417577	14417577	+	RNA	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:14417577T>A	ENST00000507941.1	+	0	189																											CAAATGGAGTTGATAAGTTTA	0.299000													6	18					0	0	0.001168	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309560	89309560	+	RNA	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:89309560C>A	ENST00000493819.1	-	0	327																											TGAATTCTGTCCCAGATCCAC	0.478000													83	223					1.13049e-35	2.18406e-35	0.003610	1	0
NPTXR	23467	broad.mit.edu	37	22	39224292	39224292	+	Splice_Site	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:39224292C>G	ENST00000333039.2	-	2	973	c.850_splice	c.e2+1	p.G284_splice		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	284						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CAGGACCCACCGTGCTCCAGC	0.602000													15	37					0	0	0.004007	0	0
DLGAP3	58512	broad.mit.edu	37	1	35333227	35333227	+	Splice_Site	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:35333227G>T	ENST00000373347.1	-	10	2755	c.2485_splice	c.e10-1	p.I829_splice	DLGAP3_ENST00000235180.4_Splice_Site_p.I829_splice			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	829					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)				TCTTCTCCAGGACTAGAAAGC	0.557000													67	23					2.73361e-28	5.1591e-28	0.003610	1	0
CANT1	124583	broad.mit.edu	37	17	76993211	76993211	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:76993211A>T	ENST00000302345.2	-	2	988	c.494T>A	c.(493-495)aTg>aAg	p.M165K	CANT1_ENST00000591773.1_Missense_Mutation_p.M165K|CANT1_ENST00000392446.5_Missense_Mutation_p.M165K	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	165					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGATAGCTCCATGCCTCTCCC	0.597000			T	ETV4	prostate								38	98					0	0	0.003755	0	0
TMEM26	219623	broad.mit.edu	37	10	63212740	63212740	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:63212740G>T	ENST00000399298.3	-	1	468	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	TMEM26_ENST00000399293.1_Missense_Mutation_p.P34T|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	34						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CAGTACCGCGGCTCCTTCTTC	0.607000													32	64					1.99505e-19	3.6188e-19	0.002445	1	0
OR51B6	390058	broad.mit.edu	37	11	5373354	5373354	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5373354T>C	ENST00000380219.1	+	1	617	c.617T>C	c.(616-618)tTg>tCg	p.L206S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAATGGTCTTGTTGGACTTT	0.443000													12	20					0	0	0.007413	0	0
CANT1	124583	broad.mit.edu	37	17	76993210	76993210	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:76993210C>A	ENST00000302345.2	-	2	989	c.495G>T	c.(493-495)atG>atT	p.M165I	CANT1_ENST00000591773.1_Missense_Mutation_p.M165I|CANT1_ENST00000392446.5_Missense_Mutation_p.M165I	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	165					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CGGATAGCTCCATGCCTCTCC	0.597000			T	ETV4	prostate								39	97					1.36161e-19	2.4767e-19	0.004289	1	0
NAA30	122830	broad.mit.edu	37	14	57866573	57866573	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:57866573A>G	ENST00000556492.1	+	4	1077	c.923A>G	c.(922-924)tAt>tGt	p.Y308C	NAA30_ENST00000555166.1_Missense_Mutation_p.Y50C|NAA30_ENST00000554703.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	308	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AAAGCTATATATGCCATGGTT	0.264000													59	57					0	0	0.003610	0	0
PC	5091	broad.mit.edu	37	11	66619265	66619265	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:66619265A>T	ENST00000393960.1	-	16	2259	c.1978T>A	c.(1978-1980)Ttc>Atc	p.F660I	PC_ENST00000393958.2_Missense_Mutation_p.F660I|PC_ENST00000393955.2_Missense_Mutation_p.F660I	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	660	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCTCACTTGAAGACCACGTTG	0.627000													17	25					0	0	0.004990	0	0
DUSP6	1848	broad.mit.edu	37	12	89745563	89745563	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:89745563C>A	ENST00000279488.7	-	1	1485	c.254G>T	c.(253-255)cGc>cTc	p.R85L	DUSP6_ENST00000308385.6_Missense_Mutation_p.R85L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	85	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCGGGTGAAGCGGTCCCGGTC	0.687000													3	8					0.004672	0.00654682	0.004672	1	0
COQ10B	80219	broad.mit.edu	37	2	198334873	198334873	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:198334873G>T	ENST00000263960.2	+	4	665	c.527G>T	c.(526-528)aGa>aTa	p.R176I	COQ10B_ENST00000545340.1_Missense_Mutation_p.R133I|COQ10B_ENST00000409398.1_Missense_Mutation_p.R126I|COQ10B_ENST00000409010.1_Missense_Mutation_p.R148I	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	176						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCTACCCAAGAACTTGTACC	0.358000													8	38					5.4927e-09	8.49937e-09	0.004482	1	0
DENND5B	160518	broad.mit.edu	37	12	31542309	31542309	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:31542309C>T	ENST00000389082.5	-	20	3854	c.3590G>A	c.(3589-3591)aGg>aAg	p.R1197K	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1232K|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1232K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1197	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAATGTTCCTGGGTGCAGT	0.373000													13	24					0	0	0.001855	0	0
POU4F2	5458	broad.mit.edu	37	4	147561489	147561489	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:147561489C>A	ENST00000281321.3	+	2	1007	c.759C>A	c.(757-759)gcC>gcA	p.A253A		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	253	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGTGGACGCCGACCCGCGGG	0.682000													13	3					4.36969e-10	6.90898e-10	0.001855	1	0
DCAF4L1	285429	broad.mit.edu	37	4	41984019	41984019	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:41984019G>T	ENST00000333141.5	+	1	307	c.210G>T	c.(208-210)gcG>gcT	p.A70A		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	70										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCTCTTTGGCGAGCGACCGAT	0.537000													21	12					4.35082e-09	6.74842e-09	0.001523	1	0
PAPPA2	60676	broad.mit.edu	37	1	176758976	176758976	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:176758976delG	ENST00000367662.3	+	18	5911	c.4747delG	c.(4747-4749)gafs	p.G1583fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1583	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGGAAGGTGGAATCTGGGA	0.458													18	30	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													7	113	---	---	---	---					
COL4A3	1285	broad.mit.edu	37	2	228173623	228173623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:228173623delG	ENST00000396578.3	+	49	4633	c.4471delG	c.(4471-4473)gcfs	p.G1491fs	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1491	Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGAACTCTTGGCAGCTGCCT	0.368													75	21	---	---	---	---					
C4orf21	55345	broad.mit.edu	37	4	113461126	113461127	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:113461126_113461127insT	ENST00000505019.1	-	27	6189_6190	c.6064_6065insA	c.(6064-6066)aatfs	p.N2022fs	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AACATTCATTCTTTTTTCTGAA	0.406													20	45	---	---	---	---					
CCNA2	890	broad.mit.edu	37	4	122743676	122743678	+	In_Frame_Del	DEL	CTT	CTT	-	rs140275604	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:122743676_122743678delCTT	ENST00000274026.5	-	2	640_642	c.337_339delAAG	c.(337-339)del	p.K113del		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	113					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATTCAGCTGGCTTCTTCTGAGCT	0.433													10	130	---	---	---	---					
PGBD1	84547	broad.mit.edu	37	6	28269721	28269721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:28269721delT	ENST00000405948.2	+	7	2510	c.2090delT	c.(2089-2091)cgfs	p.L697fs	PGBD1_ENST00000259883.3_Frame_Shift_Del_p.L697fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	697					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATTATCAGTCTGTGCTCCAAT	0.383													37	71	---	---	---	---					
GATA3	2625	broad.mit.edu	37	10	8100668	8100668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:8100668delG	ENST00000379328.3	+	3	1210	c.642delG	c.(640-642)tcfs	p.S214fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Frame_Shift_Del_p.S214fs	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	214					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCTCCTCGTCGACCCACCACC	0.682			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						23	49	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19256552	19256556	+	Frame_Shift_Del	DEL	TATGT	TATGT	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:19256552_19256556delTATGT	ENST00000527884.1	-	5	733_737	c.501_505delACATA	c.(499-507)tttgfs	p.LHM167fs	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Del_p.LHM167fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	167					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGCTCACCATATGTAAACTCTCTA	0.444													10	25	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62298255	62298255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:62298255delC	ENST00000378024.4	-	5	3908	c.3634delG	c.(3634-3636)atfs	p.D1212fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1212					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACATCCCCTTTGACT	0.478													16	456	---	---	---	---					
EMC4	51234	broad.mit.edu	37	15	34521973	34521998	+	Frame_Shift_Del	DEL	GAGGACTGCTTTTGTGAACATGAGAA	GAGGACTGCTTTTGTGAACATGAGAA	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:34521973_34521998delGAGGACTGCTTTTGTGAACATGAGAA	ENST00000249209.4	+	4	477_502	c.375_400delGAGGACTGCTTTTGTGAACATGAGAA	c.(373-402)tgagfs	p.WRTAFVNMRK125fs	EMC4_ENST00000559421.1_Stop_Codon_Del|EMC4_ENST00000267750.4_Stop_Codon_Del					ER membrane protein complex subunit 4																		TTCAGTGGTGGAGGACTGCTTTTGTGAACATGAGAAAGCAGCGCCT	0.372													7	42	---	---	---	---					
APOBR	55911	broad.mit.edu	37	16	28506849	28506850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:28506849_28506850insA	ENST00000564831.1	+	2	520_521	c.487_488insA	c.(487-489)tgafs	p.*163fs	APOBR_ENST00000431282.1_Frame_Shift_Ins_p.*163fs|CLN3_ENST00000567160.1_5'UTR|APOBR_ENST00000328423.5_Frame_Shift_Ins_p.*163fs|CLN3_ENST00000569430.1_5'UTR	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	163	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCAGGAGTCCCATGAGCAGGAA	0.619													3	3	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11687739	11687739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:11687739delC	ENST00000262442.3	+	41	8012	c.7944delC	c.(7942-7944)atfs	p.I2648fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.I2648fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2648	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAAATCCATCCCCCCACTGA	0.532													64	118	---	---	---	---					
NCAN	1463	broad.mit.edu	37	19	19349086	19349086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:19349086delG	ENST00000252575.5	+	11	3318	c.3275delG	c.(3274-3276)tgfs	p.W1092fs	NCAN_ENST00000538881.1_Frame_Shift_Del_p.W543fs	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1092	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GACCGCGGCTGGCATAAGTTC	0.662													42	69	---	---	---	---